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CV2 Editorial Board redaction CV2编辑委员会编校
Pub Date : 2004-04-01 DOI: 10.1016/S0003-3995(04)00047-4
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引用次数: 0
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome) 一例46,xy纯性腺发育不良(Swyer综合征)患者的SRY和AR基因描述及分子分析
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.08.022
Dimitrios Iliopoulos, Nikolaos Volakakis, Alexandra Tsiga, Israel Rousso, Nikolaos Voyiatzis

46,XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We describe a case of an 18 years old patient presented to us with a chief complain of primary amenorrhea. Chromosomal analysis revealed a 46,XY karyotype. A molecular investigation was undertaken in an attempt to determine mutations in SRY and AR genes through DNA sequencing. Mutations were shown to be absent. The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out. The patient, who is considered as female, was placed on estrogen replacement therapy, while bilateral prophylactic laparoscopic gonadectomy was programmed due to the high prevalence of gonadal tumors in this syndrome. No signs of malignance were detected in the gonadal tissue, which predicts that an intact SRY gene is usually, but not always, not related to the formation of malignancies like dysgeminomas or gonadoblastomas.

46、XY纯性腺发育不良,由Swyer于1955年首次描述,是由于胎儿生命的前8周睾丸组织丢失造成的,这是男性分化的关键时期。我们描述的情况下,一个18岁的病人提出了我们的主要抱怨原发性闭经。染色体分析显示为46,xy核型。我们进行了分子研究,试图通过DNA测序确定SRY和AR基因的突变。突变被证明是缺失的。Swyer综合征的分子基础尚不清楚,尽管仍不能排除SRY下游睾丸组织基因突变的存在。该患者被认为是女性,接受雌激素替代治疗,同时由于该综合征中性腺肿瘤的高患病率,计划进行双侧预防性腹腔镜性腺切除术。在性腺组织中未发现恶性肿瘤的迹象,这预示着一个完整的SRY基因通常(但并非总是)与恶性肿瘤的形成,如双胞异构瘤或性腺母细胞瘤无关。
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引用次数: 12
Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization 用比较基因组杂交检测少突胶质细胞肿瘤的染色体失衡
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.10.002
Violaine Bourdon , Ghislaine Plessis , Françoise Chapon , José Guarnieri , Jean Michel Derlon , Philippe Jonveaux

Seven well-differentiated oligodendrogliomas, 16 anaplastic oligodendrogliomas and two cases of oligoastrocytomas were investigated by comparative genomic hybridization (CGH) on frozen tissue samples. The most frequent losses found involved 1p and 19q in 32% of cases. Loss of 9p was observed during malignant progression in 25% of anaplastic oligodendrogliomas. In two anaplastic oligodendrogliomas gain of 1q was found. The frequent losses of chromosome 16 and 22 have not been reported previously. These results underscore that CGH is a powerful tool for the classification of gliomas complementing the traditional histopathological approach.

采用比较基因组杂交(CGH)技术对7例分化良好的少突胶质细胞瘤、16例间变性少突胶质细胞瘤和2例少星形细胞瘤进行了研究。最常见的损失是在32%的病例中发现的1p和19q。在25%的间变性少突胶质细胞瘤的恶性进展过程中观察到9p的缺失。在两个间变性少突胶质细胞瘤中发现了1q的增益。16号和22号染色体的频繁丢失以前没有报道过。这些结果强调,CGH是一个强大的工具,胶质瘤的分类补充了传统的组织病理学方法。
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引用次数: 11
Apolipoprotein E gene polymorphism effects triglycerides but not CAD risk in Caucasian women younger than 65 years 载脂蛋白E基因多态性影响甘油三酯,但不影响65岁以下高加索女性的CAD风险
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.01.002
Mitja Letonja , Barbara Guzič-Salobir , Borut Peterlin , Daniel Petrovič

The pathogenesis of CAD is similar in man and woman, yet some risk factors have a greater impact on the CAD risk in woman than in man. In this study we assessed the effect of the apoE gene polymorphism on lipid metabolism and risk for CAD in women younger than 65 years (premature CAD). In a cross-sectional case-control study, 147 female Caucasian patients with premature CAD (confirmed by coronarography) were compared with a control group of 114 healthy Caucasian women. The apoE allele frequencies of patients vs. controls were 5.1% vs. 5.7% for ε2, 85.4% vs. 83.3% for ε3, and 9.5% vs. 11% for ε4. The subjects with ε2/3 genotype had statistically significantly higher triglycerides levels than the subjects with ε3/3 genotype (2.23 ± 2.13 mmol⋅L-1 vs. 1.73 ± 0.84 mmol⋅L-1; p<0.05). Logistic regression analysis revealed no association between risk genotypes (ε3/4 and ε4/4) of the apoE gene polymorphism and CAD risk (OR 0.9; 95% CI 0. 5-1.7, P=0.7). We observed metabolic clustering of diabetes mellitus, arterial hypertension, higher BMI and triglycerides, and lower HDL cholesterol in the CAD group compared to the control group. Arterial hypertension, diabetes, HDL cholesterol level, and BMI were independent risk factors for premature CAD in female population, whereas, the risk genotype of the apoE gene polymorphism was not. In conclusion, in Slovene women risk genotypes of the apoE gene polymorphism are not associated with premature CAD; a metabolic clustering of diabetes, HDL, triglycerides and arterial hypertension is frequently present in Caucasian women with premature CAD.

CAD的发病机制男女相似,但一些危险因素对女性的影响大于男性。在这项研究中,我们评估了载脂蛋白e基因多态性对65岁以下女性脂质代谢和冠心病风险的影响(过早冠心病)。在一项横断面病例对照研究中,147名女性白种人早发CAD患者(经冠状造影确诊)与114名健康白种人女性的对照组进行了比较。患者与对照组的apoE等位基因频率分别为ε2 5.1% vs 5.7%、ε3 85.4% vs 83.3%、ε4 9.5% vs 11%。ε2/3基因型组甘油三酯水平显著高于ε3/3基因型组(2.23±2.13 mmol·L-1∶1.73±0.84 mmol·L-1);术中,0.05)。Logistic回归分析显示,apoE基因多态性风险基因型(ε3/4和ε4/4)与冠心病风险无相关性(OR 0.9;95% ci 0。5 - 1.7, P = 0.7)。我们观察到,与对照组相比,冠心病组有糖尿病、动脉高血压、BMI和甘油三酯升高、高密度脂蛋白胆固醇降低的代谢聚类。动脉高血压、糖尿病、高密度脂蛋白胆固醇水平和身体质量指数是女性人群早发CAD的独立危险因素,而apoE基因多态性的风险基因型不存在。总之,在斯洛文尼亚妇女中,apoE基因多态性的风险基因型与早期CAD无关;糖尿病、高密度脂蛋白、甘油三酯和动脉高血压的代谢性聚类在早发冠心病的高加索女性中经常出现。
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引用次数: 10
Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions 不平衡易位8;Y (45,X,dic(Y;8)(q11.23;p23.1)):终端8p缺失的病例报告和回顾
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.02.004
K. Bosse , T. Eggermann , K. Van der Ven , R. Raff , H. Engels , G. Schwanitz

A boy with a rare unbalanced de novo Y/autosome translocation is presented. Main clinical features in the boy comprised a psychomotor delay, talipes planus, a dolichocephalus, low set and retroverted ears, supraorbital fullness of subcutaneous tissue and a bulbous nasal tip. Chromosomal analysis on amniocytes showed a single X chromosome and a derivative 8p (Karyotype: 45,X,der(8)GTG). The following DAPI staining revealed the inactivated centromere of the chromosome Y located on 8p and the absence of heterochromatic material Yq. Microsatellite analysis on fetal blood DNA using markers between SRY on Yp and DYS 240 on Yq proved presence of the spermatogenetic relevant factors. A terminal deletion of 8p was confirmed by FISH postnatally. Molecular genetic reassessment revealed the monosomy 8p to be of maternal origin; the translocation can thus be proven to have occurred in the zygote. The breakpoint in 8p was localised distal to GATA4, a gene which is involved in heart development; the finding that our patient did not suffer from cardiac problems agrees with the disomic presence of GATA4. Only the application of FISH combined with microsatellite analysis allowed a precise correlation between clinical phenotype and a subtle deletion of terminal 8p; futhermore, a recurrence risk for the parents could be excluded.

本文报道一例罕见的新生不平衡Y/常染色体易位的男孩。该男孩的主要临床特征包括精神运动迟缓、扁平趾、头侧突出、耳后倾、眶上皮下组织丰满和鼻尖球根状。羊膜细胞的染色体分析显示单个X染色体和一个衍生8p染色体(核型:45,X,der(8)GTG)。随后的DAPI染色显示位于8p的Y染色体的失活着丝粒和异色物质Yq的缺失。利用Yp上的SRY和Yq上的DYS 240标记对胎儿血液DNA进行微卫星分析,证实存在精子发生相关因素。出生后FISH证实了8p的末端缺失。分子遗传学重鉴定显示8p单体为母系起源;因此,可以证明易位发生在受精卵中。8p基因的断点位于与心脏发育有关的基因GATA4的远端;我们的病人没有心脏问题的发现与GATA4二体的存在一致。只有FISH结合微卫星分析的应用才能在临床表型和末端8p的细微缺失之间建立精确的相关性;此外,可以排除父母复发的风险。
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引用次数: 7
A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population 印度人群KRTHB6基因新的启动子多态性(-71C>T
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.02.006
Narendra K. Bairwa, Dheeraj Malhotra, Anjana Saha, R. Bamezai

We have screened the basal promoter region, of KRTHB6 gene involving CAAT and TATA boxes in randomly selected 125 individuals of Indian origin by PCR-SSCP and DNA sequencing. We observed a novel promoter polymorphism (-71C>T) which could be differentiated by using LweI restriction enzyme. The frequency of –71 C allele, allele A (Accession no AY203963), was observed to be higher ( 0.712) in comparison to –71 T allele, allele B (0.288) (Accession no. AY037552).

我们通过PCR-SSCP和DNA测序,在随机选择的125名印度裔个体中筛选了KRTHB6基因涉及CAAT和TATA盒子的基础启动子区域。我们发现了一个新的启动子多态性(-71C>T),可以用LweI限制性内切酶来区分。-71 C等位基因A (Accession no AY203963)的频率为0.712,高于-71 T等位基因B (Accession no AY203963)的频率(0.288)。AY037552)。
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引用次数: 1
Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses 利用多重全染色体和亚端粒FISH分析鉴定一条新中心点阳性的类人猿inv - 8p标记染色体
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.02.005
M. Velinov , H. Gu , M. Genovese , C. Duncan , P. Warburton , S.Sklower Brooks , E.C. Jenkins

A 30-year-old male patient with mild mental retardation was found to have a small supernumerary marker chromosome (SMC) in 90% of his peripheral blood cells and in 100% of his fibroblast cells. Multiplex whole chromosome and sub-telomere FISH analyses were used to determine that this SMC is an inverted duplicated distal chromosome 8p fragment. Although it was negative for alpha-DNA sequences, this marker had a functional kinetochore (neocentromere) demonstrated by a positive signal with a CENP-C antibody. Apparently intact 8p telomeres at the marker’s ends were demonstrated by using a telomere repeat FISH probe. The patient’s phenotypically normal mother on G-banding analysis had a small marker chromosome in 8% of her peripheral blood cells in two cultures of the first specimen studied. The marker was not seen in any subsequent maternal peripheral blood or fibroblast specimens. Although it was impossible to further characterize the maternal SMC, it was suggested that the mother had the same marker as the one seen in the proband. Inverted duplicated chromosomal fragments are the most frequent type of analphoid markers. Stable inverted duplicated 8p marker chromosomes were previously reported in three other patients. They all apparently occurred de novo and were found to be positive for kinetochore-associated proteins. Evidence for the possible inheritance of an inverted-duplicated, analphoid SMC was not shown to-date. This study also demonstrates a practical, straighforward approach for analphoid marker characterization in clinical laboratory settings, using whole chromosome multiplex and subtelomere-specific FISH analyses. FISH probes for all sub-telomere chromosomal regions are commercially available and the large majority of analphoid marker chromosomes involve telomere regions.

一例30岁男性轻度智力迟钝患者,90%的外周血细胞和100%的成纤维细胞中发现一个小的多余标记染色体(SMC)。多重全染色体和亚端粒FISH分析确定该SMC是一个反向复制的远端染色体8p片段。虽然它对α - dna序列是阴性的,但该标记具有功能的着丝粒(新着丝粒),通过与CENP-C抗体的阳性信号证明。使用端粒重复FISH探针证明了标记末端明显完整的8p端粒。在g带分析中,患者表型正常的母亲在第一个标本的两个培养中有8%的外周血细胞有一个小的标记染色体。在随后的母体外周血或成纤维细胞标本中未见该标记物。虽然不可能进一步表征母体SMC,但建议母亲具有与先证者相同的标记。反向重复的染色体片段是最常见的类人猿标记。之前在另外三名患者中报道了稳定的倒置重复8p标记染色体。它们显然都是从头发生的,并且被发现对着丝酶相关蛋白呈阳性。到目前为止,还没有证据表明可能遗传反向复制的analphoid SMC。本研究还展示了一种实用的、直接的方法,用于临床实验室设置的anal类标记表征,使用全染色体多重性和亚端粒特异性FISH分析。所有亚端粒染色体区域的FISH探针都是市售的,绝大多数anal类体标记染色体涉及端粒区域。
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引用次数: 4
Genomics Applications in Human Biology 基因组学在人类生物学中的应用
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.04.001
Claude Stoll
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引用次数: 0
AZF microdeletions on the Y chromosome of infertile men from Turkey 土耳其不育男性Y染色体上AZF微缺失
Pub Date : 2004-01-01 DOI: 10.1016/j.anngen.2003.09.002
Canan Figen Sargın , Sibel Berker-Karaüzüm , Esra Manguoğlu , Tibet Erdoğru , Şeyda Karaveli , Kemal Hakan Gülkesen , Mehmet Baykara , Güven Lüleci

Intervals V and VI of Yq11.23 regions contain responsible genes for spermatogenesis, and are named as “azoospermia factor locus” (AZF). Deletions in these genes are thought to be pathogenetically involved in some cases of male infertility associated with azoospermia or oligozoospermia. The aim of this study was to establish the prevalence of microdeletions on the Y chromosome in infertile Turkish males with azoospermia or oligozoospermia. We applied multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets, in order to determine Y chromosome microdeletions. In this study, 61 infertile males were enrolled for the molecular AZF screening program. In this cohort, one infertile male had 46,XX karyotype and the remaining had 46,XY karyotypes. Forty-eight patients had a diagnosis of azoospermia and 13 had oligozoospermia. Microdeletions in AZFa, AZFb and AZFc (DAZ gene) regions were detected in two of the 60 (3.3%) idiopathic infertile males with normal karyotypes and a SRY translocation was determined on 46,XX male. Our findings suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

Yq11.23区域的区间V和VI包含负责精子发生的基因,被命名为“无精子症因子位点”(AZF)。这些基因的缺失被认为与一些与无精子症或少精子症相关的男性不育症有关。本研究的目的是确定无精子症或少精子症的不育土耳其男性Y染色体微缺失的患病率。我们应用多重聚合酶链反应(PCR)使用多个序列标记位点(STS)引物集,以确定Y染色体微缺失。本研究选取61名不育男性进行AZF分子筛选。在这个队列中,一名不育男性的核型为46xx,其余的核型为46xy。48例诊断为无精子症,13例诊断为少精子症。60例(3.3%)正常核型的特发性不育男性中有2例检测到AZFa、AZFb和AZFc (DAZ基因)区域的微缺失,46xx例男性检测到SRY易位。我们的研究结果表明,在开始辅助生殖治疗之前,应建议不育男性进行遗传筛查。
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引用次数: 36
Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity? 非综合征性唇裂伴或不伴腭裂的遗传学:是否存在孟德尔子实体?
Pub Date : 2004-01-01 DOI: 10.1016/j.anngen.2003.12.002
Vincent Gajdos , Michel Bahuau , Elisabeth Robert-Gnansia , Christine Francannet , Sylvaine Cordier , Catherine Bonaïti-Pellié

The mode of inheritance of nonsyndromic cleft lip with or without cleft palate (NSCLP) is still a matter of dispute. We performed segregation analysis on three data sets of families ascertained through an affected child with NSCLP. The first two data sets were selected in France and were pooled for a global analysis. No major gene effect could be evidenced in spite of a very large number of families (666 pedigrees including 719 nuclear families). The third data set was British and consisted of three-generation families including the offspring of probands. A major gene effect, as well as a strong residual multifactorial component, were highly significant and we could show that this evidence almost entirely came from the information on probands’ offspring. We conclude that a mixture of monogenic and of multifactorial cases is probably the best explanation for the observations made in this study. Analyses performed in pedigrees with multiple cases closely related might allow reducing heterogeneity and help identifying those Mendelian sub-entities.

非综合征性唇裂伴或不伴腭裂(NSCLP)的遗传方式仍存在争议。我们对三组通过非小细胞肺癌患儿确定的家庭数据进行了分离分析。前两个数据集是在法国选定的,并汇集在一起进行全球分析。尽管有大量的家庭(666个谱系,包括719个核心家庭),但没有主要的基因效应可以证明。第三组数据来自英国,由包括先证者后代在内的三代家庭组成。一个主要的基因效应,以及一个强大的残余多因子成分,是非常显著的,我们可以表明,这一证据几乎完全来自先证者的后代的信息。我们的结论是,单基因和多因子病例的混合可能是本研究中观察到的最好解释。在有多个密切相关病例的谱系中进行的分析可能会减少异质性,并有助于识别孟德尔子实体。
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引用次数: 3
期刊
Annales de Génétique
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