Annales de Génétique最新文献

CV2 Editorial Board redaction CV2编辑委员会编校

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/S0003-3995(04)00103-0

引用次数: 0

The peptide nucleic acids (PNAs): a new generation of probes for genetic and cytogenetic analyses 肽核酸(PNAs):用于遗传和细胞遗传学分析的新一代探针

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.001

Petra Paulasova , Franck Pellestor

引用次数: 70

In memoriam : Jean de Grouchy, 1926–2003 纪念:让·德·格鲁希，1926-2003

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.006

Catherine Turleau

引用次数: 0

DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group 墨西哥民族2型糖尿病候选基因的DNA多态性分析

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.05.004

S.E. Flores-Martínez , S. Islas-Andrade , M.V. Machorro-Lazo , M.C. Revilla , R.E. Juárez , K.I. Mújica-López , M.C. Morán-Moguel , M.G. López-Cardona , J. Sánchez-Corona

{"title":"DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group","authors":"S.E. Flores-Martínez , S. Islas-Andrade , M.V. Machorro-Lazo , M.C. Revilla , R.E. Juárez , K.I. Mújica-López , M.C. Morán-Moguel , M.G. López-Cardona , J. Sánchez-Corona","doi":"10.1016/j.anngen.2004.05.004","DOIUrl":"10.1016/j.anngen.2004.05.004","url":null,"abstract":"<div><p>Type 2 diabetes mellitus is a complex metabolic disorder resulting from the action and interaction of many genetic and environmental factors. It has been reported that polymorphisms in genes involved in the metabolism of glucose are associated with the susceptibility to develop type 2 diabetes mellitus. Although the risk of developing type 2 diabetes mellitus increases with age, as well as with obesity and hypertension, its prevalence and incidence are different among geographical regions and ethnic groups. In Mexico, a higher prevalence and incidence has been described in the south of the country, and differences between urban and rural communities have been observed.We studied 73 individuals from Santiago Jamiltepec, a small indigenous community from Oaxaca State, Mexico. This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study was to analyze the relationship between the <em>Pst</em> I (insulin gene), <em>Nsi</em> I (insulin receptor gene) and <em>Gly972Arg</em> (insulin receptor substrate 1 gene) polymorphisms and type 2 diabetes mellitus, obesity and hypertension in this population. Clinical evaluation consisted of BMI and blood pressure measurements, and biochemical assays consisted of determination of fasting plasma insulin and glucose levels. PCR and restriction enzyme digestion analysis were applied to genomic DNA to identify the three polymorphisms. From statistical analysis carried out here, individually, the <em>Pst</em> I, <em>Nsi</em> I and <em>Gly972Arg</em> polymorphisms were not associated with the type 2 diabetes, obese or hypertensive phenotypes in this population. Nevertheless, there was an association between the <em>Nsi</em> I and <em>Pst</em> I polymorphisms and increased serum insulin levels.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.05.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24845492","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: 21

Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers 超声检查对产前检测21三体的贡献:来自19个欧洲登记的经验

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.09.005

D. Wellesley , C. De Vigan , N. Baena , E. Cariati , C. Stoll , P.A. Boyd , M. Clementi , Euroscan Group

{"title":"Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers","authors":"D. Wellesley , C. De Vigan , N. Baena , E. Cariati , C. Stoll , P.A. Boyd , M. Clementi , Euroscan Group","doi":"10.1016/j.anngen.2004.09.005","DOIUrl":"10.1016/j.anngen.2004.09.005","url":null,"abstract":"<div><p>The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women ≥35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.09.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24845496","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: 9

Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization 荧光原位杂交分析了15号和18号染色体新生不平衡易位导致的18q11.2→qter部分三体

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.03.009

C.Nur Semerci , Muhterem Bahce , Fatih Atik , Zuhal Candemir , Isıl Kucun Kiraz , Pelin Zorlu , Davut Gül

引用次数: 1

Large duplication 4q25–q34 with mild clinical effect 大重复4q25-q34，临床效果轻微

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.007

Hatem Elghezal , Halima Sennana Sendi , Kamel Monastiri , Jean Michel Lapierre , Samira Ibala Romdhane , Soumaya Mougou , Ali Saad

引用次数: 20

Genotypic analysis of the TGF beta-509 allele in patients with systemic lupus erythematosus and Sjögren's syndrome 系统性红斑狼疮及Sjögren综合征患者TGF β -509等位基因的基因型分析

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.003

Tina M. Caserta , Alyssa A. Knisley , Filemon K. Tan , Frank C. Arnett , Thomas L. Brown

{"title":"Genotypic analysis of the TGF beta-509 allele in patients with systemic lupus erythematosus and Sjögren's syndrome","authors":"Tina M. Caserta , Alyssa A. Knisley , Filemon K. Tan , Frank C. Arnett , Thomas L. Brown","doi":"10.1016/j.anngen.2004.07.003","DOIUrl":"10.1016/j.anngen.2004.07.003","url":null,"abstract":"<div><p>Transforming growth factor beta (TGFβ) is a secreted protein present in the circulation and is a critical regulator of the body's immune system. TGFβ is believed to control several components of the immune system and inhibit autoimmune reactions. Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) are prototypical human autoimmune diseases characterized by the circulating autoantibodies directed against nuclear antigens and immune complex deposition in various tissues leading to target organ inflammation and damage. Although the etiology of SLE is unknown, it has been observed that patients with SLE have lower levels of circulating TGFβ than healthy individuals. In addition, mice lacking the TGFβ1 gene develop a severe autoimmune disease that has features of both SS and SLE. Polymorphisms in the TGFβ1 gene may alter the mRNA expression levels and influence the plasma protein concentration. Of the known TGFβ 1 polymorphisms, only the C-509T polymorphism in the promoter region has been shown to be significantly associated with the plasma concentrations of TGFβ 1. In this study, we have conducted a blinded study to determine if the -509 TGFβ1 gene polymorphism is associated with SS or SLE. Genomic PCR and RFLP analysis of a 441 bp sequence encompassing the –509 polymorphism of the TGFβ gene indicated that there were no statistically significant clinical correlations.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.07.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24845494","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: 17

Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population 突尼斯人群中血色素沉着病(HFE)基因C282Y和H63D突变的患病率

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.05.001

R. Sassi , Slama Hmida , H. Kaabi , A. Hajjej , A. Abid , S. Abdelkefi , S. Yacoub , M. Maamar , N. Mojaat , L. Ben Hamed , H. Bellali , A. Dridi , A. Jridi , B. Midouni , M.K. Boukef

引用次数: 31

Effect of 5637 conditioned medium (CM) on the mitotic index in the cytogenetic evaluation of myeloproliferative disorders 5637条件培养基(CM)对骨髓增生性疾病细胞遗传学评价中有丝分裂指数的影响

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.08.002

Alessandro Gozzetti, Daniela Tozzuoli, Rosaria Crupi, Monica Bocchia, Serena Mazzotta, Francesco Lauria

引用次数: 1