首页 > 最新文献

Journal of Genetics最新文献

英文 中文
Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant 扩展贝克-戈登综合征的遗传和表型谱:一个新的SYT1基因变异体
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-07-05 DOI: 10.1007/s12041-024-01476-8
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín

We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous de novo Synaptotagmin 1 (SYT1) missense variant, NM_005639.3:c.930T>A (p.Asp310Glu), in a female proband. This gene encodes the synaptotagmin-1 (SYT1) protein, which is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. Pathogenic SYT1 variants have been associated with Baker–Gordon syndrome (BAGOS), an autosomal dominant neurodevelopmental disorder. Although up to 30 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with mitochondrial respiratory chain deficiencies and rod–cone dysfunction. In conclusion, our data expand both the genetic and phenotypic spectrum associated with SYT1 variants.

我们报告了一例患有发育迟缓、肌张力低下、喂养困难、视力问题和运动过度的西班牙儿童患者。全外显子组测序在一名女性患者身上发现了一个新的杂合子突触表敏-1(SYT1)错义变异 NM_005639.3:c.930T>A(p.Asp310Glu)。该基因编码突触标记蛋白-1(SYT1),它是参与突触小泡与突触前膜融合的蛋白质复合物的一个组成部分。致病性 SYT1 变异与贝克-戈登综合征(BAGOS)有关,这是一种常染色体显性神经发育障碍。虽然全球已发现多达 30 例,但据我们所知,这是第一例被描述为线粒体呼吸链缺陷和杆状核功能障碍的患者。总之,我们的数据扩大了与 SYT1 变异相关的遗传和表型谱。
{"title":"Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant","authors":"Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín","doi":"10.1007/s12041-024-01476-8","DOIUrl":"https://doi.org/10.1007/s12041-024-01476-8","url":null,"abstract":"<p>We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous <i>de novo</i> Synaptotagmin 1 (<i>SYT1</i>) missense variant, NM_005639.3:c.930T&gt;A (p.Asp310Glu), in a female proband. This gene encodes the synaptotagmin-1 (SYT1) protein, which is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. Pathogenic <i>SYT1</i> variants have been associated with Baker–Gordon syndrome (BAGOS), an autosomal dominant neurodevelopmental disorder. Although up to 30 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with mitochondrial respiratory chain deficiencies and rod–cone dysfunction. In conclusion, our data expand both the genetic and phenotypic spectrum associated with <i>SYT1</i> variants.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"4 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141546691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer 检测尾状同源染色体 1 (CDX1) 基因甲基化 DNA,作为基于粪便的结直肠癌诊断生物标志物
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-06-22 DOI: 10.1007/s12041-024-01473-x
Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani

Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting in the conversion of intestinal epithelial cells to malignant adenocarcinoma cells. Caudal type homeobox 1 (CDX1) gene is a homeobox transcription factor and a selective tumour suppressor gene that is an important factor for the development of intestinal cells. This gene plays a role in the differentiation of intestinal epithelial cells, and its expression decreases in a number of cell lines derived from CRC, which suggests that a lack of CDX1 expression is a risk factor for the development of colorectal carcinoma. Therefore, the methylated DNA amounts of CDX1 gene in stool samples were investigated as a noninvasive method for the detection of CRC. In the present study, the methylation of CDX1 gene promoter region was assessed in stool samples of 50 CRC patients and 50 healthy individuals by MethyLight PCR using two primers and a Taq Man probe, which was completely specifically designed for fully methylated DNA of the gene promoter region. The percentage of methylated reference (PMR) of the studied gene in all samples was calculated similarly to previous studies. Statistical analysis was performed using SPSS 16. The PMR medians were 3.25 (95% CI: 0.1–100) and 0.1 (95% CI: 0.07–1) in the stool samples of CRC patients and healthy individuals, respectively. The results showed a significant difference in CDX1 gene PMR between stool samples of CRC patients and controls (P-value <0.001). According to the results of this study, it can be argued that measurement of CDX1 gene DNA in stool samples using the MethyLight PCR has acceptable sensitivity and specificity, and is adequately potential to be used as a noninvasive complementary method for the diagnosis of CRC, along with colonoscopy as the gold standard to this end. This study is the first report on CDX1 methylation in stool samples of CRC patients. Therefore, further research should be carried out with a larger sample size to evaluate its efficacy as a diagnostic biomarker in clinical laboratories.

众所周知,结肠直肠癌(CRC)的发生是由于基因和表观遗传学改变的累积,导致肠上皮细胞转化为恶性腺癌细胞。Caudal type homeobox 1(CDX1)基因是一种同源转录因子,也是一种选择性肿瘤抑制基因,是肠细胞发育的重要因素。该基因在肠上皮细胞的分化过程中发挥着作用,而在一些源自 CRC 的细胞系中,该基因的表达量有所下降,这表明 CDX1 表达量的缺乏是导致结直肠癌发生的一个危险因素。因此,研究人员将粪便样本中 CDX1 基因的 DNA 甲基化量作为检测 CRC 的一种非侵入性方法。本研究采用 MethyLight PCR 方法,使用两种引物和 Taq Man 探针评估了 50 名 CRC 患者和 50 名健康人粪便样本中 CDX1 基因启动子区的甲基化情况。所有样本中研究基因的甲基化参考百分比(PMR)的计算方法与之前的研究类似。统计分析使用 SPSS 16 进行。在 CRC 患者和健康人的粪便样本中,PMR 中值分别为 3.25(95% CI:0.1-100)和 0.1(95% CI:0.07-1)。结果显示,CDX1 基因 PMR 在 CRC 患者和对照组粪便样本中存在显著差异(P 值为 0.001)。根据这项研究的结果,可以认为使用 MethyLight PCR 检测粪便样本中的 CDX1 基因 DNA 具有可接受的灵敏度和特异性,完全有可能作为诊断 CRC 的一种无创辅助方法,与结肠镜检查一起作为诊断 CRC 的金标准。本研究是首次报道 CRC 患者粪便样本中 CDX1 甲基化的情况。因此,还需要进行样本量更大的进一步研究,以评估其作为临床实验室诊断生物标志物的功效。
{"title":"Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer","authors":"Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani","doi":"10.1007/s12041-024-01473-x","DOIUrl":"https://doi.org/10.1007/s12041-024-01473-x","url":null,"abstract":"<p>Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting in the conversion of intestinal epithelial cells to malignant adenocarcinoma cells. Caudal type homeobox 1 (<i>CDX1</i>) gene is a homeobox transcription factor and a selective tumour suppressor gene that is an important factor for the development of intestinal cells. This gene plays a role in the differentiation of intestinal epithelial cells, and its expression decreases in a number of cell lines derived from CRC, which suggests that a lack of <i>CDX1</i> expression is a risk factor for the development of colorectal carcinoma. Therefore, the methylated DNA amounts of <i>CDX1</i> gene in stool samples were investigated as a noninvasive method for the detection of CRC. In the present study, the methylation of <i>CDX1</i> gene promoter region was assessed in stool samples of 50 CRC patients and 50 healthy individuals by MethyLight PCR using two primers and a Taq Man probe, which was completely specifically designed for fully methylated DNA of the gene promoter region. The percentage of methylated reference (PMR) of the studied gene in all samples was calculated similarly to previous studies. Statistical analysis was performed using SPSS 16. The PMR medians were 3.25 (95% CI: 0.1–100) and 0.1 (95% CI: 0.07–1) in the stool samples of CRC patients and healthy individuals, respectively. The results showed a significant difference in <i>CDX1</i> gene PMR between stool samples of CRC patients and controls (<i>P</i>-value &lt;0.001). According to the results of this study, it can be argued that measurement of <i>CDX1</i> gene DNA in stool samples using the MethyLight PCR has acceptable sensitivity and specificity, and is adequately potential to be used as a noninvasive complementary method for the diagnosis of CRC, along with colonoscopy as the gold standard to this end. This study is the first report on <i>CDX1</i> methylation in stool samples of CRC patients. Therefore, further research should be carried out with a larger sample size to evaluate its efficacy as a diagnostic biomarker in clinical laboratories.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"31 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141511349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease HSD11B1 和 ACE 基因的多态性与沙眼疾病的关系
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-06-18 DOI: 10.1007/s12041-024-01474-w
LAURA L. VALDEZ-VELAZQUEZ, HÉCTOR OCHOA-DÍAZ-LÓPEZ, IVÁN DELGADO-ENCISO, HÉCTOR RANGEL-VILLALOBOS, IRÁM P. RODRÍGUEZ-SÁNCHEZ, ROSARIO GARCÍA-MIRANDA, DOIREYNER DANIEL VELÁZQUEZ-RAMÍREZ, NANCY A. REYES-MÉNDEZ, CARLOS EDUARDO BARAJAS-SAUCEDO, MARGARITA L. MARTÍNEZ-FIERRO

Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case–control study (n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the HSD11B1 gene (OR = 22.5–27.3), particularly in men when adjusts for gender (OR = 16–16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2–5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17–0.179; P = 0.0048–0.0073). Two SNPs HSD11B1 gene (P = 0.013 vs 0.0039) and HSD11B1ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups.

由沙眼衣原体引起的沙眼是世界上最常见的传染性失明,在恰帕斯州(墨西哥)的玛雅原住民中也有发生。患沙眼时,炎症基因会被激活,因此某些多态性会增加患上不可逆失明的易感性。本研究旨在评估玛雅人患晚期沙眼的遗传风险。在一项病例对照研究中(n = 51 对 n = 102),分析了与炎症有关的基因中的以下单核苷酸多态性(SNPs):HSD11B1(rs11807619)、HSD11B1(rs932335)、ABCG2(rs2231142)、SLCO1B1(rs4149056)、IL-10(rs1800890)、TNF(rs1800629)、MMP2(rs243865)和 ACE。有三个 SNP 与晚期沙眼风险有关:(i) rs11807619 的 T 等位基因,(ii) rs932335 的 C 等位基因,它们与 HSD11B1 基因有关(OR = 22.5-27.3),尤其是男性,如果调整性别(OR = 16-16.7);(iii) ACE 基因中 rs4340 的 D 等位基因(OR = 5.2-5.3)。事实上,ACE 基因与 HSD11B1 SNPs 之间存在明显的连锁不平衡关系(r = 0.17-0.179;P = 0.0048-0.0073)。两个 SNP HSD11B1 基因(P = 0.013 vs 0.0039)和 HSD11B1-ACE 单倍型与玛雅族晚期沙眼有关。
{"title":"Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease","authors":"LAURA L. VALDEZ-VELAZQUEZ, HÉCTOR OCHOA-DÍAZ-LÓPEZ, IVÁN DELGADO-ENCISO, HÉCTOR RANGEL-VILLALOBOS, IRÁM P. RODRÍGUEZ-SÁNCHEZ, ROSARIO GARCÍA-MIRANDA, DOIREYNER DANIEL VELÁZQUEZ-RAMÍREZ, NANCY A. REYES-MÉNDEZ, CARLOS EDUARDO BARAJAS-SAUCEDO, MARGARITA L. MARTÍNEZ-FIERRO","doi":"10.1007/s12041-024-01474-w","DOIUrl":"https://doi.org/10.1007/s12041-024-01474-w","url":null,"abstract":"<p>Trachoma, caused by <i>Chlamydia trachomatis</i>, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case–control study (<i>n</i> = 51 vs <i>n</i> = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: <i>HSD11B1</i> (rs11807619), <i>HSD11B1</i> (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and <i>ACE</i>. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the <i>HSD11B1</i> gene (OR = 22.5–27.3), particularly in men when adjusts for gender (OR = 16–16.7); and (iii) D allele of rs4340 in the <i>ACE</i> gene (OR = 5.2–5.3). In fact, significant linkage disequilibrium demonstrated association between <i>ACE</i> gene and <i>HSD11B1</i> SNPs (r = 0.17–0.179; <i>P</i> = 0.0048–0.0073). Two SNPs <i>HSD11B1</i> gene (<i>P</i> = 0.013 vs 0.0039) and <i>HSD11B1</i>–<i>ACE</i> haplotypes showed association with late-stage trachoma in Mayan ethnic groups.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"42 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141530271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Special clinical entity with 15q26 deletion: a novel case report 15q26 缺失的特殊临床症状:一份新病例报告
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-05-28 DOI: 10.1007/s12041-024-01468-8
Wei-Liang Liu, Fang Li, Lu Liu, Rong Ai

In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of cases with chromosome microdeletions involving 15q26 including CHD2. The present study analysed the clinical data and collected venous blood samples from a pediatric patient and his healthy family members for DNA testing. The whole-exome sequencing was performed by the next-generation sequencing (NGS). Chromosomal copy-number variations were tested based on NGS. We present a review of all cases with chromosome microdeletions affecting CHD2. A novel de novo 5.82-Mb deletion at 15q25.3-15q26.1 including CHD2 was identified in our patient who is an 11.6-year-old boy. We first found surprising efficacy of lamotrigine in controlling intractable drop seizures in the individual. These cases have development delay, behavioural problems, epilepsy, variable multiple anomalies, etc. Phenotypes of individuals with deletions involving 15q26 including CHD2 are highly variable with regard to facial features and multiple developmental anomalies. We first found the special clinical entity of development delay, behavioural problems, epilepsy, variable skeletal and muscular anomalies, abnormalities of variable multiple systems and characteristic craniofacial phenotypes in patients with chromosome microdeletions involving CHD2. The larger deletions involving 15q26 including CHD2 tend to cause the classical phenotype. A distinctive craniofacial appearance of the classical phenotype is midface hypoplasia and perifacial protrusion.

过去,对于涉及 15q26 染色体微缺失(包括 CHD2)的病例,没有容易识别的特征作为临床和基因诊断的指导。本研究分析了临床数据,并采集了一名儿科患者及其健康家庭成员的静脉血样本进行 DNA 检测。全外显子组测序采用新一代测序技术(NGS)进行。基于 NGS 对染色体拷贝数变异进行了检测。我们回顾了所有影响 CHD2 的染色体微缺失病例。我们的患者是一名 11.6 岁的男孩,在 15q25.3-15q26.1 发现了一个新的 5.82-Mb 缺失,其中包括 CHD2。我们首先发现拉莫三嗪对控制该患者的难治性癫痫发作有惊人的疗效。这些病例有发育迟缓、行为问题、癫痫、多发性异常等。涉及 15q26 缺失(包括 CHD2)的个体在面部特征和多种发育异常方面的表型差异很大。我们首次在涉及 CHD2 的染色体微缺失患者中发现了发育迟缓、行为问题、癫痫、可变骨骼和肌肉异常、可变多系统异常和特征性颅面表型等特殊临床实体。包括 CHD2 在内的 15q26 染色体较大缺失往往会导致典型的表型。典型表型的特征性颅面外观是面中部发育不良和面周突出。
{"title":"Special clinical entity with 15q26 deletion: a novel case report","authors":"Wei-Liang Liu, Fang Li, Lu Liu, Rong Ai","doi":"10.1007/s12041-024-01468-8","DOIUrl":"https://doi.org/10.1007/s12041-024-01468-8","url":null,"abstract":"<p>In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of cases with chromosome microdeletions involving 15q26 including <i>CHD2</i>. The present study analysed the clinical data and collected venous blood samples from a pediatric patient and his healthy family members for DNA testing. The whole-exome sequencing was performed by the next-generation sequencing (NGS). Chromosomal copy-number variations were tested based on NGS. We present a review of all cases with chromosome microdeletions affecting <i>CHD2</i>. A novel <i>de novo</i> 5.82-Mb deletion at 15q25.3-15q26.1 including <i>CHD2</i> was identified in our patient who is an 11.6-year-old boy. We first found surprising efficacy of lamotrigine in controlling intractable drop seizures in the individual. These cases have development delay, behavioural problems, epilepsy, variable multiple anomalies, etc. Phenotypes of individuals with deletions involving 15q26 including <i>CHD2</i> are highly variable with regard to facial features and multiple developmental anomalies. We first found the special clinical entity of development delay, behavioural problems, epilepsy, variable skeletal and muscular anomalies, abnormalities of variable multiple systems and characteristic craniofacial phenotypes in patients with chromosome microdeletions involving <i>CHD2</i>. The larger deletions involving 15q26 including <i>CHD2</i> tend to cause the classical phenotype. A distinctive craniofacial appearance of the classical phenotype is midface hypoplasia and perifacial protrusion.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"21 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141166152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extraction of genomic DNA for sequencing from snail Helix lucorum 从蜗牛 Helix lucorum 提取用于测序的基因组 DNA
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-05-18 DOI: 10.1007/s12041-024-01472-y
Dmitry Panteleev, Anastasia Sadova, Galina Pavlova

Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., though they are unworkable without sequences of genomic DNA of an organism. The terrestrial mollusks’ genomes would benefit gastropod biology investigations, that are unavailable so far due to problems in DNA integrity and quality after the isolation procedures. Here we describe a fast and handy protocol for genomic DNA extraction from the tissues of Helix lucorum, which allows to yield high-quality samples applicable for downstream analysis such as high-throughput DNA sequencing. Troubleshooting revealed the nuclease activity of snail tissue lysate, which may be avoided by heating the lysate and decreasing the incubation time.

基因组研究使生物化学、生理学、系统发育学等许多领域的研究取得突破成为可能,但如果没有生物体的基因组DNA序列,这些研究是无法进行的。陆生软体动物的基因组将有利于腹足类生物学研究,但由于分离程序后 DNA 的完整性和质量问题,迄今为止还无法获得陆生软体动物的基因组。在此,我们介绍了一种快速、简便的方法,用于从螺旋藻组织中提取基因组DNA,从而获得高质量的样本,用于下游分析,如高通量DNA测序。故障排除显示蜗牛组织裂解液具有核酸酶活性,这可以通过加热裂解液和缩短孵育时间来避免。
{"title":"Extraction of genomic DNA for sequencing from snail Helix lucorum","authors":"Dmitry Panteleev, Anastasia Sadova, Galina Pavlova","doi":"10.1007/s12041-024-01472-y","DOIUrl":"https://doi.org/10.1007/s12041-024-01472-y","url":null,"abstract":"<p>Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., though they are unworkable without sequences of genomic DNA of an organism. The terrestrial mollusks’ genomes would benefit gastropod biology investigations, that are unavailable so far due to problems in DNA integrity and quality after the isolation procedures. Here we describe a fast and handy protocol for genomic DNA extraction from the tissues of <i>Helix lucorum,</i> which allows to yield high-quality samples applicable for downstream analysis such as high-throughput DNA sequencing. Troubleshooting revealed the nuclease activity of snail tissue lysate, which may be avoided by heating the lysate and decreasing the incubation time.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"57 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141061784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales) 红藻角叉菜(红藻门,Halymeniales)的有丝分裂基因组特征和系统发育分析
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-05-18 DOI: 10.1007/s12041-024-01471-z
Maheshkumar Prakash Patil, Young-Ryun Kim, Shinya Nakashita, Jong-Oh Kim, Kyunghoi Kim

The mitogenome is an important tool for taxonomic and evolutionary investigation. Here, a few complete mitogenomes of red algae have been reported. We have reported the complete mitogenome sequences of Grateloupia cornea Okamura, 1913 (Rhodophyta, Halymeniales). The genome is 30,595 bp in circumference, and has a strongly biased [AT] = 66.9%. Like most other Grateloupia species, it has a group II intron in the cox1 gene. Maximum likelihood and maximum parsimony analyses showed that G. cornea is more closely related to G. asiatica. This shows that the group II intron in the cox1 ORF present in most species of Grateloupia was present in their common ancestor, and uniquely lost in G. asiatica. The seven Grateloupia species with known mitogenome sequences remain monophyletic, with the genus Polyopes as sister taxon. The complete mitochondrial genome data will be valuable for future research on comparative mitochondrial genome analysis, an extensive understanding of gene content and organization, evolution of the cox1 intron in Rhodophyta as well as phylogenetic analysis.

有丝分裂基因组是分类和进化研究的重要工具。目前,已有一些完整的红藻有丝分裂基因组被报道。我们报告了冈村藻(Grateloupia cornea Okamura, 1913)(红藻门,Halymeniales)的完整有丝分裂基因组序列。该基因组周长为 30,595 bp,具有强偏倚 [AT] = 66.9%。与其他大多数 Grateloupia 物种一样,它的 cox1 基因中有一个 II 组内含子。最大似然法和最大拟合分析表明,G. cornea 与 G. asiatica 的亲缘关系更近。这表明,大多数 Grateloupia 种类的 cox1 ORF 中的 II 组内含子存在于它们的共同祖先中,而在 G. asiatica 中丢失了。具有已知有丝分裂基因组序列的 7 个 Grateloupia 物种仍为单系,与 Polyopes 属为姐妹类群。完整的线粒体基因组数据对今后的线粒体基因组比较分析研究、广泛了解基因内容和组织、红叶植物中 cox1 内含子的进化以及系统发育分析都很有价值。
{"title":"Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales)","authors":"Maheshkumar Prakash Patil, Young-Ryun Kim, Shinya Nakashita, Jong-Oh Kim, Kyunghoi Kim","doi":"10.1007/s12041-024-01471-z","DOIUrl":"https://doi.org/10.1007/s12041-024-01471-z","url":null,"abstract":"<p>The mitogenome is an important tool for taxonomic and evolutionary investigation. Here, a few complete mitogenomes of red algae have been reported. We have reported the complete mitogenome sequences of <i>Grateloupia cornea</i> Okamura, 1913 (Rhodophyta, Halymeniales). The genome is 30,595 bp in circumference, and has a strongly biased [AT] = 66.9%. Like most other <i>Grateloupia</i> species, it has a group II intron in the <i>cox1</i> gene. Maximum likelihood and maximum parsimony analyses showed that <i>G. cornea</i> is more closely related to <i>G. asiatica</i>. This shows that the group II intron in the <i>cox1</i> ORF present in most species of <i>Grateloupia</i> was present in their common ancestor, and uniquely lost in <i>G. asiatica</i>. The seven <i>Grateloupia</i> species with known mitogenome sequences remain monophyletic, with the genus <i>Polyopes</i> as sister taxon. The complete mitochondrial genome data will be valuable for future research on comparative mitochondrial genome analysis, an extensive understanding of gene content and organization, evolution of the <i>cox1</i> intron in Rhodophyta as well as phylogenetic analysis.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"29 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141061738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae) 极度濒危的马来西亚巨龟 Orlitia borneensis(鳖科:Geoemydidae)的首个完整线粒体基因组
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-05-03 DOI: 10.1007/s12041-024-01469-7
Mohd Hairul Mohd Salleh, Yuzine Esa

We present here the complete mitochondrial sequence of the critically endangered Malaysian giant turtle, Orlitia borneensis. The assembled mitochondrial genome includes 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, two ribosomal RNA genes (rRNAs), and one control region. This mitochondrial genome has been archived in the NCBI GenBank with accession number OQ808845. The Batagur control region is relatively smaller than O. borneensis and closer to Aldabrachelys gigantea, which suggests potentially that O. borneensis has undergone an expansion in the control region.

我们在此发表了极度濒危的马来西亚巨龟 Orlitia borneensis 的完整线粒体序列。该线粒体基因组包括 13 个蛋白质编码基因(PCGs)、22 个转运核糖核酸(tRNA)基因、两个核糖体核糖核酸基因(rRNAs)和一个控制区。该线粒体基因组已存档于 NCBI GenBank,登录号为 OQ808845。Batagur 的控制区比 O. borneensis 小,更接近 Aldabrachelys gigantea,这可能表明 O. borneensis 的控制区发生了扩展。
{"title":"The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae)","authors":"Mohd Hairul Mohd Salleh, Yuzine Esa","doi":"10.1007/s12041-024-01469-7","DOIUrl":"https://doi.org/10.1007/s12041-024-01469-7","url":null,"abstract":"<p>We present here the complete mitochondrial sequence of the critically endangered Malaysian giant turtle, <i>Orlitia borneensis</i>. The assembled mitochondrial genome includes 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, two ribosomal RNA genes (rRNAs), and one control region. This mitochondrial genome has been archived in the NCBI GenBank with accession number OQ808845. The <i>Batagur</i> control region is relatively smaller than <i>O. borneensis</i> and closer to <i>Aldabrachelys gigantea</i>, which suggests potentially that <i>O. borneensis</i> has undergone an expansion in the control region.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"162 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140889897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic characterization and linkage analysis of spotted leaf 6, liguleless and lax panicle traits in mutant rice 突变水稻斑叶 6、无叶舌和松散圆锥花序性状的遗传特征和连锁分析
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-04-17 DOI: 10.1007/s12041-024-01466-w
Mohammad Nurul Matin, Kyung Eun Lee, Sang Gu Kang

Phenotypic mutants are valuable resources for elucidating the function of genes responsible for their expression. This study examined mutant rice strains expressing three traits: spotted leaf 6 (spl6), lax panicle (lax), and liguleless (lg). In the mutant, the spl6 phenotype was a genetically programmed lesion-mimicking mutation (LMM) that displayed spontaneously scattered spots across the leaf surface. In the lg trait, the plant lacked a collar region, and there were no auricles and ligules at the junction of the leaf blade and leaf sheath. The lax panicle trait manifested as sparely arranged spikelets resulting from the terminal spikelet with no lateral spikelets, which caused a drastic reduction of the total seed number in the mutant. All three mutant genes were genetically recessive and had nuclear gene regulation. The dihybrid segregation of the lg gene was classified independently according to the Mendelian 9:3:3:1 dihybrid segregation ratio in the F2 generation, suggesting that the lg gene is not linked to the same chromosome as the lax and spl6 genes. On the other hand, spl6 and lax were not assorted independently, indicating that they are closely linked on chromosome 1 in rice. Additional linkage analysis from the recombination of spl6 and lax genes reconfirmed that the two genes were ~9.4 cM away from each other. The individual single-gene mutant plant from one plant with a three-gene mutation (spl6, lax, and lg) was isolated and characterized, which will be a crucial resource for the gene cloning and molecular characterization of these genes.

表型突变体是阐明基因功能的宝贵资源。本研究考察了表达三种性状的突变水稻株系:斑点叶6(spl6)、疏松圆锥花序(lax)和无叶舌(lg)。在突变体中,spl6 表型是一种基因编程的病变模拟突变(LMM),在叶片表面显示自发散布的斑点。在 lg 性状中,植株缺乏叶领区,叶片和叶鞘交界处没有叶耳和叶舌。圆锥花序疏松性状表现为顶穗产生的小穗稀疏排列,没有侧穗,这导致突变体的种子总数急剧下降。这三个突变基因均为隐性遗传,具有核基因调控功能。在F2代中,lg基因的双杂交分离按孟德尔双杂交分离比9:3:3:1独立分类,表明lg基因与lax和spl6基因不在同一染色体上。另一方面,spl6 和 lax 并非独立分离,表明它们在水稻的 1 号染色体上紧密相连。通过对 spl6 和 lax 基因重组的附加连锁分析,再次证实这两个基因相距约 9.4 cM。从一株三基因(spl6、lax 和 lg)突变的植株中分离并鉴定了单基因突变植株,这将成为这些基因克隆和分子鉴定的重要资源。
{"title":"Genetic characterization and linkage analysis of spotted leaf 6, liguleless and lax panicle traits in mutant rice","authors":"Mohammad Nurul Matin, Kyung Eun Lee, Sang Gu Kang","doi":"10.1007/s12041-024-01466-w","DOIUrl":"https://doi.org/10.1007/s12041-024-01466-w","url":null,"abstract":"<p>Phenotypic mutants are valuable resources for elucidating the function of genes responsible for their expression. This study examined mutant rice strains expressing three traits: spotted leaf 6 (<i>spl6</i>), lax panicle (<i>lax</i>), and liguleless (<i>lg</i>). In the mutant, the <i>spl6</i> phenotype was a genetically programmed lesion-mimicking mutation (LMM) that displayed spontaneously scattered spots across the leaf surface. In the <i>lg</i> trait, the plant lacked a collar region, and there were no auricles and ligules at the junction of the leaf blade and leaf sheath. The <i>lax</i> panicle trait manifested as sparely arranged spikelets resulting from the terminal spikelet with no lateral spikelets, which caused a drastic reduction of the total seed number in the mutant. All three mutant genes were genetically recessive and had nuclear gene regulation. The dihybrid segregation of the <i>lg</i> gene was classified independently according to the Mendelian 9:3:3:1 dihybrid segregation ratio in the F<sub>2</sub> generation, suggesting that the <i>lg</i> gene is not linked to the same chromosome as the <i>lax</i> and <i>spl6</i> genes. On the other hand, <i>spl6</i> and <i>lax</i> were not assorted independently, indicating that they are closely linked on chromosome 1 in rice. Additional linkage analysis from the recombination of <i>spl6</i> and <i>lax</i> genes reconfirmed that the two genes were ~9.4 cM away from each other. The individual single-gene mutant plant from one plant with a three-gene mutation (<i>spl6, lax</i>, and <i>lg</i>) was isolated and characterized, which will be a crucial resource for the gene cloning and molecular characterization of these genes.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"12 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL 胎儿血红蛋白升高、预后不良以及遗传变异 HBG2 rs7482144、HBS1L-MYB rs9399137 和 BCL11A rs4671393 在 ALL 儿童中的保护作用
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-04-17 DOI: 10.1007/s12041-024-01470-0
FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE

In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (BCL11A), HBS1L-MYB transcriptional GTPase intergenic region (HBS1L-MYB), Krüppel-like factor 1 (KLF1), haemoglobin gamma subunit 2 (HBG2), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 (HBBP1) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (n = 36) of the patients had HbF > 2.5%. Unfavourable prognosis ALL was established in 68.8% (n = 33) of the patients. Variant HBG2 rs7482144 was associated with high HbF concentration (P = 0.015); while HBS1L-MYB rs9399137 (P = 0.001), HBG2 rs7482144 (P = 0.001) and the β-globin genes HBG2, HBG1, and HBPP1 haplotype TGC (P = 0.017) with unfavourable prognosis ALL. Additionally, variant BCL11A rs4671393 showed a protective role (P = 0.0001). In conclusion, variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 may play a significant role in ALL.

在急性淋巴细胞白血病(ALL)中,胎儿血红蛋白(HbF)水平的升高与患者的预后有关。HbF 调控基因的遗传变异包括BAF染色质重塑复合物亚基(BCL11A)、HBS1L-MYB转录GTP酶基因间区(HBS1L-MYB)、Krüppel样因子1(KLF1)、血红蛋白γ亚基2(HBG2)、血红蛋白γ亚基1(HBG1)和血红蛋白亚基β伪基因1(HBBP1)的遗传变异往往与HbF浓度升高有关。本研究调查了HbF调控基因的遗传变异与HbF浓度、不利预后和ALL患儿预后的关系。我们对 48 名 ALL 患者和 64 名非 ALL 儿童(作为参照组)的 HbF 浓度进行了量化,并对 17 个遗传变异进行了基因分型。患者的 HbF 浓度高于参照组(4.4% 对 1.4%),75% 的患者(n = 36)的 HbF 为 2.5%。68.8%(33 人)的患者预后不良。变异型 HBG2 rs7482144 与高 HbF 浓度相关(P = 0.015);而 HBS1L-MYB rs9399137(P = 0.001)、HBG2 rs7482144(P = 0.001)和β-球蛋白基因 HBG2、HBG1 和 HBPP1 单倍型 TGC(P = 0.017)与预后不良的 ALL 相关。此外,变体 BCL11A rs4671393 具有保护作用(P = 0.0001)。总之,变异体HBG2 rs7482144、HBS1L-MYB rs9399137和BCL11A rs4671393可能在ALL中发挥重要作用。
{"title":"Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL","authors":"FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE","doi":"10.1007/s12041-024-01470-0","DOIUrl":"https://doi.org/10.1007/s12041-024-01470-0","url":null,"abstract":"<p>In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (<i>BCL11A</i>), HBS1L-MYB transcriptional GTPase intergenic region (<i>HBS1L-MYB</i>), Krüppel-like factor 1 (<i>KLF1</i>), haemoglobin gamma subunit 2 (<i>HBG2</i>), haemoglobin gamma subunit 1 (<i>HBG1</i>), and haemoglobin subunit beta pseudogene 1 (<i>HBBP1</i>) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (<i>n</i> = 36) of the patients had HbF &gt; 2.5%. Unfavourable prognosis ALL was established in 68.8% (<i>n</i> = 33) of the patients. Variant <i>HBG2</i> rs7482144 was associated with high HbF concentration (<i>P</i> = 0.015); while <i>HBS1L</i>-<i>MYB</i> rs9399137 (<i>P</i> = 0.001), <i>HBG2</i> rs7482144 (<i>P</i> = 0.001) and the β-globin genes <i>HBG2</i>, <i>HBG1</i>, and <i>HBPP1</i> haplotype TGC (<i>P</i> = 0.017) with unfavourable prognosis ALL. Additionally, variant <i>BCL11A</i> rs4671393 showed a protective role (<i>P</i> = 0.0001). In conclusion, variants <i>HBG2</i> rs7482144, <i>HBS1L</i>-<i>MYB</i> rs9399137 and <i>BCL11A</i> rs4671393 may play a significant role in ALL.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"29 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reflections on assortative mating, social stratification, and genetics 对同配、社会分层和遗传学的思考
IF 1.5 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Pub Date : 2024-04-08 DOI: 10.1007/s12041-024-01467-9
Oliver Mayo, Vidyanand Nanjundiah

A recent report by G. Clark points to a sustained persistence of social status in England that extends vertically across several generations and horizontally across many levels of kinship. We seek to put his findings in historical perspective. We do so by relating them to two lines of thinking related to biological inheritance. One predated the rediscovery of Mendel’s work and led to the field of quantitative genetics, which dealt on the whole with quasi-continuously varying traits. The other is based on the rediscovery itself and led to a reconciliation between quantitative genetics and discrete Mendelian elements of heredity. Both were enmeshed with the supposed need for, and societal consequences of, eugenics and assortative mating. Also on both issues, the significant ideas can be traced to R. A. Fisher, inspired in one case by F. Galton and in the other by J. A. Cobb, with strong support for Galton and Cobb coming from Karl Pearson. Clark’s findings point to societal stratification, and assortative mating for wealth is a straightforward hypothesis to account for it. However, it should be noted that the findings support, but do not prove, the hypothesis.

克拉克(G. Clark)最近的一份报告指出,英国的社会地位持续存在,纵向上跨越几代人,横向上跨越多个亲属层次。我们试图从历史的角度来看待他的发现。为此,我们将其与有关生物遗传的两种思路联系起来。一种是在重新发现孟德尔的工作之前,并导致了数量遗传学领域的出现,该领域总体上涉及准连续变化的性状。另一个领域则以孟德尔的重新发现为基础,导致了定量遗传学与孟德尔遗传学离散元素之间的调和。这两个问题都与优生学和异性交配的所谓必要性和社会后果有关。同样,在这两个问题上,重要的观点都可以追溯到 R. A. 费雪,一个是受 F. 高尔顿的启发,另一个是受 J. A. 柯布的启发,而卡尔-皮尔逊对高尔顿和柯布的大力支持。克拉克的研究结果表明了社会分层,而财富的同类交配则是解释这一现象的直接假设。不过,应该指出的是,研究结果支持了这一假设,但并没有证明这一假设。
{"title":"Reflections on assortative mating, social stratification, and genetics","authors":"Oliver Mayo, Vidyanand Nanjundiah","doi":"10.1007/s12041-024-01467-9","DOIUrl":"https://doi.org/10.1007/s12041-024-01467-9","url":null,"abstract":"<p>A recent report by G. Clark points to a sustained persistence of social status in England that extends vertically across several generations and horizontally across many levels of kinship. We seek to put his findings in historical perspective. We do so by relating them to two lines of thinking related to biological inheritance. One predated the rediscovery of Mendel’s work and led to the field of quantitative genetics, which dealt on the whole with quasi-continuously varying traits. The other is based on the rediscovery itself and led to a reconciliation between quantitative genetics and discrete Mendelian elements of heredity. Both were enmeshed with the supposed need for, and societal consequences of, eugenics and assortative mating. Also on both issues, the significant ideas can be traced to R. A. Fisher, inspired in one case by F. Galton and in the other by J. A. Cobb, with strong support for Galton and Cobb coming from Karl Pearson. Clark’s findings point to societal stratification, and assortative mating for wealth is a straightforward hypothesis to account for it. However, it should be noted that the findings support, but do not prove, the hypothesis.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"2 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140563334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of Genetics
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1