Annales de Génétique最新文献_第5页

CV2 Editorial Board redaction CV2编辑委员会编校

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/S0003-3995(04)00047-4

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

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.08.022

Dimitrios Iliopoulos, Nikolaos Volakakis, Alexandra Tsiga, Israel Rousso, Nikolaos Voyiatzis

{"title":"Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)","authors":"Dimitrios Iliopoulos, Nikolaos Volakakis, Alexandra Tsiga, Israel Rousso, Nikolaos Voyiatzis","doi":"10.1016/j.anngen.2003.08.022","DOIUrl":"10.1016/j.anngen.2003.08.022","url":null,"abstract":"<div><p>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 <em>SRY</em> gene is usually, but not always, not related to the formation of malignancies like dysgeminomas or gonadoblastomas.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 185-190"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.08.022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24555767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Annales de Génétique 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

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

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.01.002

Mitja Letonja , Barbara Guzič-Salobir , Borut Peterlin , Daniel Petrovič

{"title":"Apolipoprotein E gene polymorphism effects triglycerides but not CAD risk in Caucasian women younger than 65 years","authors":"Mitja Letonja , Barbara Guzič-Salobir , Borut Peterlin , Daniel Petrovič","doi":"10.1016/j.anngen.2004.01.002","DOIUrl":"10.1016/j.anngen.2004.01.002","url":null,"abstract":"<div><p>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<sup>-1</sup> vs. 1.73 ± 0.84 mmol⋅L<sup>-1</sup>; 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, <em>P</em>=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.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 147-153"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.01.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Annales de Génétique 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

{"title":"Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions","authors":"K. Bosse , T. Eggermann , K. Van der Ven , R. Raff , H. Engels , G. Schwanitz","doi":"10.1016/j.anngen.2004.02.004","DOIUrl":"10.1016/j.anngen.2004.02.004","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 191-197"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24555770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.02.006

Narendra K. Bairwa, Dheeraj Malhotra, Anjana Saha, R. Bamezai

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

Annales de Génétique 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

{"title":"Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses","authors":"M. Velinov , H. Gu , M. Genovese , C. Duncan , P. Warburton , S.Sklower Brooks , E.C. Jenkins","doi":"10.1016/j.anngen.2004.02.005","DOIUrl":"10.1016/j.anngen.2004.02.005","url":null,"abstract":"<div><p>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 <em>de novo</em> 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.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 199-205"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24554160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Genomics Applications in Human Biology 基因组学在人类生物学中的应用

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2004.04.001

Claude Stoll

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

Annales de Génétique 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

{"title":"AZF microdeletions on the Y chromosome of infertile men from Turkey","authors":"Canan Figen Sargın , Sibel Berker-Karaüzüm , Esra Manguoğlu , Tibet Erdoğru , Şeyda Karaveli , Kemal Hakan Gülkesen , Mehmet Baykara , Güven Lüleci","doi":"10.1016/j.anngen.2003.09.002","DOIUrl":"10.1016/j.anngen.2003.09.002","url":null,"abstract":"<div><p><span>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 </span>Y chromosome<span><span><span><span> in infertile Turkish males with azoospermia or oligozoospermia. We applied multiplex polymerase chain reaction (PCR) using several </span>sequence-tagged site<span> (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 </span></span>46,XX<span> 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%) </span></span>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.</span></p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 61-68"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.09.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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?

Annales de Génétique 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

{"title":"Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?","authors":"Vincent Gajdos , Michel Bahuau , Elisabeth Robert-Gnansia , Christine Francannet , Sylvaine Cordier , Catherine Bonaïti-Pellié","doi":"10.1016/j.anngen.2003.12.002","DOIUrl":"10.1016/j.anngen.2003.12.002","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 29-39"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.12.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3