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Distribution of Human-specific Alu InDel Polymorphisms in the Brahmin and Rajput Populations of Kangra District of Himachal Pradesh, North India 印度北部喜马偕尔邦康格拉地区婆罗门和拉杰普特人群中人类特异性Alu InDel多态性分布
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-08-05 DOI: 10.31901/24566330.2021/21.03.784
S. Chahal
ABSTRACT The genetic constitution of two endogamous caste populations viz., the Brahmin (n=250) and Rajput (n=250) of Kangra district of the North Indian state of Himachal Pradesh was studied using six autosomal Alu InDel (insertion/deletion) markers viz., ACE, APO, PV92, CD4, PLAT, and TPA25 All markers were found to be polymorphic. Except for Alu APO and PV92 in the Rajput, genotype frequencies of other markers were in the Hardy-Weinberg equilibrium in both the populations. The average heterozygosity (H) was observed higher in the Brahmin (0.4134) compared to the Rajput (0.3809) and the degree of genic differentiation was low between them (GST =0.00898). The genetic distance analysis revealed close genetic affinities of the present Rajput population with the Gaddi Rajput and Gaddi Brahmin populations reported earlier from the district but the present Brahmin population was found distant from them.
摘要采用ACE、APO、PV92、CD4、PLAT和TPA25等6个常染色体Alu-InDel(插入/缺失)标记,对印度北部喜马偕尔邦Kangra区的两个内配种姓群体Brahmin(n=250)和Rajput(n=250。除了Rajput中的Alu APO和PV92外,其他标记的基因型频率在两个群体中都处于Hardy-Weinberg平衡。Brahmin(0.4134)的平均杂合度(H)高于Rajput(0.3809),二者之间的基因分化程度较低(GST=0.00898)。遗传距离分析显示,目前Rajput群体与该地区早期报道的Gaddi-Rajput和Gaddi-Brahmin群体具有密切的遗传亲缘关系,但目前的Brahmin人群被发现离他们很远。
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引用次数: 0
Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan 巴基斯坦奎达地区女性CYP19A1基因SNP rs700519与多囊卵巢综合征(PCOS)的关系
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-08-03 DOI: 10.31901/24566330.2021/21.02.782
Rozeena Shaikh
ABSTRACT Polycystic Ovary Syndrome (PCOS) is endocrine reproductive disorder which causes oligomenorrhea/ amenorrhea, infertility, type II diabetes. The present study aims in CYP19A1 polymorphism rs700519 (C/T) identification that elevates androgen among PCOS females in Quetta, Pakistan. Cross-sectional study involved enrollment of 100 control and 100 affected females. Blood samples were collected for genetic and hormonal analysis. The samples were amplified via ARMS PCR and analyzed by sequencing. The frequency of CC genotype in control and PCOS group was 48 percent and 33 percent. For CT, it was 52 percent and 67 percent. In control group, the allele frequency for C and T was 0.74 and 0.26. In PCOS group, it was 0.67 and 0.33 for C and T, respectively. The Pearson Chi-Square p=0.031 (p<0.05) at 95% Confidence Interval inferred a significant difference between the observed genotypes. The study inferred that CT genotype is a risk factor for PCOS progression in the population of Quetta.
摘要多囊卵巢综合征(PCOS)是一种内分泌生殖障碍,可导致月经过少/闭经、不孕和II型糖尿病。本研究旨在鉴定CYP19A1多态性rs700519(C/T)在巴基斯坦奎达多囊卵巢综合征女性中升高雄激素。横断面研究涉及100名对照组和100名受影响女性。采集血样进行基因和激素分析。通过ARMS PCR扩增样品并通过测序进行分析。对照组和多囊卵巢综合征组CC基因型频率分别为48%和33%。CT分别为52%和67%。在对照组中,C和T的等位基因频率分别为0.74和0.26。PCOS组的C和T分别为0.67和0.33。95%置信区间下的皮尔逊卡方p=0.031(p<0.05)推断出观察到的基因型之间存在显著差异。研究推断CT基因型是奎达人群中多囊卵巢综合征进展的危险因素。
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引用次数: 1
Investigation of SP1 and SP3 Expressions in Colorectal Cancer Carcinogenesis SP1和SP3在大肠癌癌症发生中的表达研究
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-07-25 DOI: 10.31901/24566330.2021/21.03.777
T. Gurer
ABSTRACT The study aimed to determine the expressions of SP1 and SP3 and the clinic pathological characteristics of patients, and the correlation between the expressions of SP1 and SP3 in colorectal cancer (CRC). In this study, tumour and adjacent non-tumour tissue samples were obtained from 41 individuals with CRC. SP1 and SP3 expressions were performed using Quantitative Real-Time Polymerase Chain Reaction (RT-qPCR). According to the results of our study, there was no statistically significant difference in SP1 and SP3 expression levels between tumour tissues and non-tumour tissues (p>0.05), as well as no association with clinic pathological features of patients. In addition, a high positive correlation was found between the expressions of SP1 and SP3 genes in CRC (p=0.01). Consequently, it can be said that there is a correlation between SP1 and SP3 expressions, but SP1 and SP3 expressions are not related to CRC carcinogenesis.
摘要本研究旨在探讨SP1和SP3的表达与结直肠癌(CRC)患者的临床病理特征,以及SP1和SP3表达与结直肠癌(CRC)的相关性。在本研究中,从41例结直肠癌患者中获得肿瘤和邻近非肿瘤组织样本。采用实时荧光定量聚合酶链反应(RT-qPCR)检测SP1和SP3蛋白的表达。根据我们的研究结果,SP1、SP3在肿瘤组织与非肿瘤组织的表达水平差异无统计学意义(p < 0.05),且与患者的临床病理特征无关。SP1和SP3基因在结直肠癌中的表达呈高度正相关(p=0.01)。因此,可以说SP1和SP3的表达存在相关性,但SP1和SP3的表达与CRC的癌变无关。
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引用次数: 0
Plasma CircRNAs for First Trimester Prediction of Preeclampsia and Potential Biomarkers 血浆环状rna用于妊娠早期子痫前期预测和潜在的生物标志物
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-07-15 DOI: 10.31901/24566330.2021/21.03.788
Jie Lu
ABSTRACT This study investigated expression profiles and mechanisms of circular RNAs on preeclampsia patients between 7-14 weeks. RNA sequencing demonstrated 12,579 circRNAs (7,684 upregulated and 4,895 downregulated) expressed differentially in 8 pairs of plasma samples from preeclampsia patients and healthy controls. Predicted 15 upregulated and 9 downregulated circRNAs then were assessed through qRT-PCR in 50 preeclampsia patients and 30 controls. Differentially expressed circRNAs in preeclampsia patients and controls were analyzed by RNA sequencing and gene ontology, Kyoto Encyclopedia of Genes and Genomes and circRNA-miRNA-mRNA network analyzed data. Hsa_circ_0046677 and hsa_circ_0029703 were markedly increased in preeclampsia patients. Receiver operator characteristic curve analysis indicated the area under the curve was 0.083 for hsa_circ_0046677 and 0.965 for hsa_circ_00429703 while the sensitivity and specificity of these two genes were 78 percent, 88 percent and 83 percent, 93 percent, respectively. Hsa_circ_0046677 and hsa_circ_00429703 had enormous potentials for diagnosing preeclampsia of pregnant women in the first trimester.
本研究探讨了7-14周子痫前期患者环状rna的表达谱及其机制。RNA测序显示12,579个环状RNA(7,684个上调,4,895个下调)在来自子痫前期患者和健康对照的8对血浆样本中表达差异。然后通过qRT-PCR在50例子痫前期患者和30例对照组中评估15个预测的上调和9个下调的环状rna。通过RNA测序和基因本体分析先兆子痫患者和对照组差异表达的circRNAs,京都基因与基因组百科全书和circRNA-miRNA-mRNA网络分析数据。Hsa_circ_0046677和hsa_circ_0029703在子痫前期患者中显著升高。受体算子特征曲线分析表明,hsa_circ_0046677的曲线下面积为0.083,hsa_circ_00429703的曲线下面积为0.965,两个基因的敏感性和特异性分别为78%、88%和83%、93%。Hsa_circ_0046677和hsa_circ_00429703对早期妊娠孕妇子痫前期诊断潜力巨大。
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引用次数: 0
Investigation and Prevalence of Hepatitis C Virus Genotypes in Pregnant Women 孕妇丙型肝炎病毒基因型的调查与流行
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-06-08 DOI: 10.31901/24566330.2021/21.02.781
Muhamad Asif
ABSTRACT Hepatitis C virus (HCV) causes severe liver infection and is spread through blood transmission from infected person to healthy individuals. HCV is more common in less developed countries due to poor hygienic conditions. This condition can be worse in pregnant women, where HCV can infect the fetus and may lead to chronic infections and may cause cirrhosis and carcinoma. Therefore, the purpose of this research was to study the distribution and prevalence of HCV in pregnant women in the Pakistani population, where such data are unavailable. Blood from 72 HCV-positive pregnant women was collected, RNA was extracted and nested PCR was performed for genotyping using genotypespecific primers. The most frequent genotype was found to be 3a (79%), followed by 3b (4%), 1a (4%), 1b (2%) and mixed genotypes (2%). The severity of HCV, reaction to therapy, and prognosis depend on several factors and one of the most important factors is genotype. Hence, this study will pave the way for the adoption of efficient therapeutic models to control HCV in high-risk populations.
丙型肝炎病毒(HCV)引起严重的肝脏感染,并通过血液从感染者传播给健康人。由于卫生条件差,丙型肝炎在欠发达国家更为常见。孕妇的这种情况可能更糟,丙型肝炎病毒会感染胎儿,可能导致慢性感染,并可能导致肝硬化和癌症。因此,本研究的目的是研究巴基斯坦人群中孕妇丙型肝炎病毒的分布和流行率,而这些数据尚不可用。采集72名HCV阳性孕妇的血液,提取RNA,并使用基因型特异性引物进行巢式PCR基因分型。最常见的基因型是3a(79%),其次是3b(4%)、1a(4%),1b(2%)和混合基因型(2%)。HCV的严重程度、对治疗的反应和预后取决于几个因素,其中最重要的因素之一是基因型。因此,这项研究将为采用有效的治疗模型来控制高危人群中的丙型肝炎病毒铺平道路。
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引用次数: 0
Correlations of Serum MMP-9, TIMP-1, TGF-β and bFGF Levels with Atrial Fibrillation in Patients without Structural Heart Disease 非结构性心脏病患者血清MMP-9、TIMP-1、TGF-β和bFGF水平与心房颤动的相关性
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-06-03 DOI: 10.31901/245666330.2021/21.02.774
Xinchun Yang
ABSTRACT The researchers aimed in highlighting the correlations of serum MMP-9, TIMP-1, TGF-β1 and bFGF levels with atrial fibrillation (AF) within diseased persons showing no structural heart ailment. A total of 236 eligible diseased persons had been categorized within AF category (n=168) and non-AF category (n=68). Left atrial diameter (LAD), left ventricular end-diastolic dimension (LVEDD) and left ventricular ejection fraction (LVEF) had been measured through cardiac ultrasonography. Comparing concerning non-AF category, AF class had larger LAD and smaller LVEF (P<0.01). MMP-9 and TGF-β1 levels had been higher while TIMP-1 level remained less within AF class as compared to non-AF class (P<0.01). Age, LVEF and left atrial MMP-9/TIMP-1 remained free correlative factors of AF (P<0.01). MMP-9/TIMP-1 remained definitely correlated concerning LAD within AF class (r=0.509, P<0.01). Left atrial MMP-9/TIMP-1 remained higher within diseased persons regarding persistent AF (P<0.01). Left atrial MMP-9/TIMP-1 is correlated with AF within diseased persons having no structural heart ailment, particularly in the case of persistent AF.
摘要研究人员旨在强调血清MMP-9、TIMP-1、TGF-β1和bFGF水平与无结构性心脏病患者心房颤动(AF)的相关性。共有236名符合条件的患病者被分为房颤类别(n=168)和非房颤类型(n=68)。通过心脏超声测量左心房直径(LAD)、左心室舒张末期内径(LVEDD)和左心室射血分数(LVEF)。与非房颤组相比,房颤组LAD较大,LVEF较小(P<0.01)。房颤组MMP-9和TGF-β1水平较高,TIMP-1水平较低(P<0.01),LVEF和左心房MMP-9/TIMP-1仍然是房颤的自由相关因素(P<0.01)。MMP-9/TIMP1与房颤级别内的左前降支保持明确相关(r=0.509,P<0.01)。在持续性房颤患者中,左心房MMP-9/1TIMP-1仍然较高(P<0.01),在没有结构性心脏病的患者中,特别是在持续AF的情况下。
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引用次数: 0
A Novel Heterozygous Missense Mutation in COL7A1 Gene in Dystrophic Epidermolysis Bullosa 营养不良大疱性表皮松解症COL7A1基因杂合错义突变
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-05-05 DOI: 10.31901/24566330.2021/21.03.780
Rozeena Shaikh
ABSTRACT Hereditary Epidermolysis Bullosa is categorized by blister formation on the skin which includes Dystrophic Epidermolysis Bullosa as one of its types. It is characterized by blister formation on hands, feet, knees, and elbows. The severe condition leads to vision loss and blemishes. The objectives included the identification of COL7A1 gene mutation for DEB susceptibility through sequence analysis of hot spot regions of 73, 74 and 75 exons. The experimental design included the enrolment of DEB-affected two families. The genetic analysis techniques included inorganic DNA extraction, Polymerase Chain Reaction and Sanger sequencing method. The study inferred the identification of novel missense mutation in exon 75 of COL7A1 gene at (c. 6223 G>T) where the aspartic acid is converted into tyrosine in the heterozygous condition in affected families. The recognized novel missense mutation is silent (heterozygous) which becomes severe when homozygous. However, whole-exome sequencing strategy may identify the causative mutations.
遗传性大疱性表皮松解症按皮肤上水疱的形成进行分类,其中营养不良大疱性皮肤松解症是其类型之一。其特征是手、脚、膝盖和肘部形成水泡。严重的情况会导致视力下降和瑕疵。目的包括通过对73、74和75个外显子的热点区域进行序列分析,鉴定DEB易感性的COL7A1基因突变。实验设计包括受DEB影响的两个家庭的入学情况。遗传分析技术包括无机DNA提取、聚合酶链式反应和桑格测序法。该研究推断了COL7A1基因第75外显子(c.6223 G>T)中新的错义突变的鉴定,其中天冬氨酸在受影响家族的杂合条件下转化为酪氨酸。公认的新错义突变是沉默的(杂合的),当纯合时会变得严重。然而,全外显子组测序策略可以识别致病突变。
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引用次数: 0
MiR-34a/SIRT1 Axis Modulating Therapeutic Effect of Olaparib on Pancreatic Cancer through Suppressing PARP1 and EMT MiR-34a/SIRT1轴通过抑制PARP1和EMT调节奥拉帕尼对癌症的治疗作用
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-05-03 DOI: 10.31901/24566330.2021/21.02.775
Linxun Liu
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引用次数: 0
Mitofusin 2 Expression in Placental Tissues of Preeclamptic Patients and Its Correlations with Trophoblast Invasion and Placental Hypoxia 线粒体融合蛋白2在子痫前期患者胎盘组织中的表达及其与滋养细胞侵袭和胎盘缺氧的关系
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-03-20 DOI: 10.31901/245666330.2021/21-01.773
Xiaoyan Wang
The researcher aimed to detect mitofusin 2 (Mfn2) expression in the placental tissues of preeclampsia (PE) patients and correlations with trophoblast invasion and placental hypoxia. Mfn2 mRNA expressions in placental tissues from PE and healthy pregnant women were detected by qRT-PCR. Trophoblast cells JEG-3 were transfected with small-interfering RNA-Mfn2 (si-Mfn2). Proliferation was tested by CCK-8 and colony formation assays. Invasion and migration were determined with Transwell assay. Mfn2, HIF-1á, HPH-1 and leptin protein expressions were detected by Western blotting. Mfn2 protein had strong positive and weak negative expressions in normal and PE women, respectively. Mfn2 mRNA expression in PE women was lower than that in normal women (P<0.05). Compared with control and si- NC groups, si-Mfn2 group had lower proliferation, migration and invasion abilities, as well as HIF-1á, HPH-1 and leptin expressions (P<0.05). Mfn2 expression in the placental tissues of PE women obviously decreases, which inhibits trophoblast invasion and triggers placental hypoxia.
研究人员旨在检测子痫前期(PE)患者胎盘组织中有丝分裂蛋白2 (mitofusin 2, Mfn2)的表达及其与滋养细胞侵袭和胎盘缺氧的关系。采用qRT-PCR检测PE孕妇和健康孕妇胎盘组织中Mfn2 mRNA的表达。用小干扰RNA-Mfn2 (si-Mfn2)转染滋养细胞JEG-3。用CCK-8和菌落形成试验检测细胞增殖。Transwell法测定侵袭和迁移。Western blotting检测Mfn2、hif -1 、HPH-1和leptin蛋白的表达。Mfn2蛋白在正常和PE女性中分别呈强阳性和弱阴性表达。PE组Mfn2 mRNA表达低于正常组(P<0.05)。与对照组和si- NC组相比,si- mfn2组细胞的增殖、迁移和侵袭能力以及hif -1、HPH-1和瘦素的表达均降低(P<0.05)。PE女性胎盘组织中Mfn2表达明显降低,抑制滋养细胞侵袭,引发胎盘缺氧。
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引用次数: 0
Association of MMP-9 and PCNA Protein Expression in Osteosarcoma are Associated with Clinical Stage, Metastasis, and Prognosis 骨肉瘤中MMP-9和PCNA蛋白表达与临床分期、转移和预后的关系
IF 0.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2021-02-15 DOI: 10.31901/24566330.2021/21.01.772
Bo Zhao
ABSTRACT Present work studies the expressions of MMP-9 and PCNA in osteosarcoma patients and its correlation with clinical stage. 53 specimens of osteosarcoma were surgically removed and 28 osteochondroma tissues were used for immunohistochemical staining to detect the expression of proliferating cell nuclear antigen (PCNA) as well as matrix metalloproteinase-9 (MMP-9). The expression rates of MMP-9, as well as PCNA, were 75.5 percent and 86.8 percent in osteosarcoma, while were 10.7 percent and 7.5 percent in osteochondroma, respectively, which was statistically significant (P<0.05). The expression levels of MMP-9, PCNA, and the total survival time were connected with the Enneking stage. It shows an upward trend for the expression levels of PCNA and MMP- 9 in osteosarcoma tissues. The expression levels of MMP-9 and PCNA are related to the clinical stage, metastasis, and prognosis.
本文研究骨肉瘤患者MMP-9和PCNA的表达及其与临床分期的关系。应用免疫组化方法检测骨肉瘤组织中增殖细胞核抗原(PCNA)和基质金属蛋白酶-9(MMP-9)的表达。骨肉瘤中MMP-9和PCNA的表达率分别为75.5%和86.8%,骨软骨瘤中分别为10.7%和7.5%,具有统计学意义(P<0.05)。骨肉瘤组织中PCNA和MMP-9的表达呈上升趋势。MMP-9和PCNA的表达水平与临床分期、转移和预后有关。
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引用次数: 0
期刊
International Journal of Human Genetics
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