Annales de Génétique最新文献

{"title":"Evolution","authors":"Claude Stoll","doi":"10.1016/j.anngen.2004.02.001","DOIUrl":"10.1016/j.anngen.2004.02.001","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Page 103"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82272343","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}

{"title":"Awareness of folic acid for prevention of neural tube defects in a community with high prevalence of consanguineous marriages","authors":"Lutfi Jaber ,&nbsp;Igbaria A. Karim ,&nbsp;Abu Moch Jawdat ,&nbsp;Mawasi Fausi ,&nbsp;Paul Merlob","doi":"10.1016/j.anngen.2003.08.023","DOIUrl":"10.1016/j.anngen.2003.08.023","url":null,"abstract":"<div><p>Neural tube defects (NTDs) are severe congenital malformations and can be fatal. Intake of 0.4 mg folic in the periconceptional period reduces the risk of NTD by 50–70%. Consanguinity in the Arab population in Israel is a prevalent custom. The aim of this study was to assess the level of awareness regarding folic acid and its effect in the prevention of NTD among Arab Israeli women of childbearing age. We conducted a cross-sectional study. Of the 653 women (18–45 years) who were randomly selected for interview while visiting their family physician or well-baby clinic, 624 women completed the questionnaire. Fifty-three percent (<em>n</em> = 333) of the respondents had heard of folic acid; 14% (<em>n</em> = 89) were familiar with the protective effect of NTD and 3% (<em>n</em> = 18) had taken folic acid in the first months of pregnancy whereas none of them had used it in the preconception period. Highly educated women, women with one or two children, paramedics, and women of high socioeconomic status were more knowledgeable about the protective effects of folic acid (<em>P</em> &lt; 0.001). Age and religion had no significant effect. An urgent need exists to improve the awareness of this population to the protective effect of folic acid. Daily supplementation and fertification of food with folic acid should be considered as the best way to improve the balance of folic acid in women of childbearing age of this special population (high prevalence of consanguinity).</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 69-75"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.08.023","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440756","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}

{"title":"Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X","authors":"Barbara Panasiuk ,&nbsp;Ruta Ušinskiené ,&nbsp;Ewa Kostyk ,&nbsp;Alicja Rybałko ,&nbsp;Beata Stasiewicz-Jarocka ,&nbsp;Bogustawa Krzykwa ,&nbsp;Barbara Pieńkowska-Grela ,&nbsp;Vaidutis Kučinskas ,&nbsp;Kyra Michalova ,&nbsp;Alina T Midro","doi":"10.1016/j.anngen.2004.01.001","DOIUrl":"10.1016/j.anngen.2004.01.001","url":null,"abstract":"<div><p>A central concept in genetic counselling is the estimation of the probability of occurrence of unbalanced progeny at birth and other unfavourable outcomes of pregnancy (miscarriages, stillbirths and early death). The estimation of the occurrence probability for individual carriers of four different X-autosome translocations with breakpoints at Xp, namely t(X;5)(p22.2;q32), t(X;6)(p11.2;q21), t(X;7)(p22.2;p11.1), and t(X;22)(p22.1;p11.1), is presented. The breakpoint positions of chromosomal translocations were interpreted using GTG, RBG and FISH-wcp. Most of these translocations were detected in women with normal phenotype, karyotyped because of repeated miscarriages and/or malformed progeny. A girl with very rare pure trisomy Xp22.1→pter and a functional Xp disomy was ascertained in one family and her clinical picture has been described in details. It has been suggested that not fully skewed X chromosome inactivation of X-autosome translocation with breakpoint positions at Xp22 (critical segment) could influence the phenotype and risk value. Therefore, the X inactivation status was additionally evaluated by analysis of replication banding patterns using RBG technique after incorporation of BrdU. In two carriers of translocations: t(X;5)(p22.2;q32) and t(X;7)(p22.2;p11.1), late replication state of der(X) was observed in 5/100 and 10/180 analysed cells, respectively. In these both cases the breakpoint positions were clustered at the critical segment Xp22.2. In two other cases, one with the breakpoint position within [t(X;22)(p22.1;p11.1)] and one outside the critical region [t(X;6)(p11.2;q21)], fully skewed inactivation was seen. Therefore, we suggest that neither the distribution of the breakpoint positions nor fully skewed inactivation influenced the phenotype of observed t(X;A) carriers. The occurrence probabilities of the unbalanced progeny were calculated according to Stene and Stengel-Rutkowski along with application of updated available empirical data. In the studied group the values of occurrence probability for unbalanced offspring at birth ranged from 2.1% to 17%. Information on the magnitude of the individual figures may be important for women carrying a reciprocal X;A translocation when deciding upon further family planning.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 11-28"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.01.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440757","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}

{"title":"Topology of constitutional reciprocal translocations in metaphase","authors":"María G. Domínguez ,&nbsp;R. Troyo ,&nbsp;Ana I. Vásquez ,&nbsp;Alma L. Ramos ,&nbsp;Horacio Rivera","doi":"10.1016/S0003-3995(03)00033-9","DOIUrl":"10.1016/S0003-3995(03)00033-9","url":null,"abstract":"<div><p>We studied in 39 carriers of 26 reciprocal translocations (including five de novo and seven of indeterminate occurrence) the metaphase localization of the derivative chromosomes, their normal non-homologous counterparts (here called A and B), and two control pairs (C and D). In eight familial translocations, we analysed two to five carriers. We digitally captured 10 G–banded lymphocyte metaphases per individual and measured in microns the largest diameter (<em>d</em>) of the metaphase and six intercentromeric distances: (1) der A↔der B (problem distance 1, pd1), (2) der A↔B (pd2), (3) der B↔A (pd3), (4) A↔B (control distance 1, cd1), (5) the smaller distance between C and D (cd2) and (6) the largest distance between C and D (cd3); in addition, the average between C and D (cd4) was calculated. We used the formula Δ = 100(cd – pd)/<em>d</em> 12 times per metaphase, compared each pd vs. each cd, and tested the differences by the Wilcoxon matched-pair test. Although, in the whole sample there were not significant differences respect to cd1, this distance emerged as the proper control. In the eight familial translocations, the three pd vs. cd1 comparisons revealed that in 19/24 times the pd was smaller but only once reached significance (cd1 vs. pd2 in t[3;4]). In the analysis per individual the pd was smaller than cd1 in 19 (pd1), 22 (pd2) and 22 (pd3) cases although only twice reached significance. We conclude that in some translocations, the derivative chromosomes actually lie close from each other or from a normal non-homologous counterpart.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 85-93"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00033-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440761","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}

{"title":"Prenatal diagnosis of cerebral malformation with an uncertain prognosis: a study concerning couple’s information and consequences on pregnancy","authors":"Marie-Laure Moutard ,&nbsp;Grégoire Moutel ,&nbsp;Irène François ,&nbsp;Isabelle Fauriel ,&nbsp;Josué Feingold ,&nbsp;Gérard Ponsot ,&nbsp;Christian Hervé","doi":"10.1016/j.anngen.2003.10.004","DOIUrl":"10.1016/j.anngen.2003.10.004","url":null,"abstract":"<div><p>Fetal ultrasound (FU) is used during almost all pregnancies and makes a large contribution to the identification of fetal malformation. It is particularly difficult to announce a malformation, particularly those affecting the brain, because there are often doubts concerning both the diagnosis and the prognosis.</p><p><em><strong>Aim. –</strong></em><span> The aim of this study was to analyze how imaging for prenatal screening is organized and how couples are managed and supported. We concentrated on the procedures used to inform couples: content, method of delivery and consequences.</span></p><p><em><strong>Method. –</strong></em>: Study amongst large multidisciplinary centers in Paris and the Paris region, by semi-directed interviews using a questionnaire.</p><p><em><strong>Results. –</strong></em>: We showed that it is difficult to standardize the way in which information is supplied before and after the examination, and that doctors tend to recommend abortion when the prognosis is uncertain.</p><p><em><strong>Discussion. –</strong></em>: These results provide information that will help decision-making concerning a standardized procedure allowing couples to benefit from all the capacities of prenatal screening, particularly when the diagnosis and prognosis are uncertain. There is a need for multidisciplinary teams to support and to accompany the decision concerning whether to have an abortion or to continue the pregnancy.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 41-51"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440802","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}

{"title":"Vascular Ehlers–Danlos syndrome","authors":"Dominique P Germain,&nbsp;Yessica Herrera-Guzman","doi":"10.1016/j.anngen.2003.07.002","DOIUrl":"10.1016/j.anngen.2003.07.002","url":null,"abstract":"<div><p>Vascular Ehlers–Danlos syndrome, also known as Ehlers–Danlos syndrome type IV, is a life-threatening inherited disorder of connective tissue, resulting from mutations in the <em>COL3A1</em> gene coding for type III procollagen. Vascular EDS causes severe fragility of connective tissues with arterial and gastrointestinal rupture, and complications of surgical and radiological interventions. As for many rare orphan diseases, delay in diagnosis is common, even when the clinical features are typical, leading to inadequate or inappropriate treatment and management. In childhood many individuals with vascular EDS are first thought to have coagulation disorders. In adulthood, four main clinical findings, including a striking facial appearance, easy bruising, translucent skin with visible veins and rupture of vessels, gravid uterus or intestines, contribute to the diagnosis, which can be confirmed by SDS-PAGE studies of type III procollagen molecules synthesis by cultured fibroblasts or by the identification of a mutation in the <em>COL3A1</em> gene coding for type III procollagen. Vascular EDS is inherited as an autosomal dominant trait. Varied molecular mechanisms have been observed and, of the mutations described to date, most have been unique to each family or “private”, with no correlation between genotype and phenotype. Vascular EDS is of particular importance to surgeons, radiologists, obstetricians and geneticists since, although there is currently no specific treatment for the condition, knowledge of the diagnosis may help in the management of visceral complications, pregnancy and genetic counseling.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 1-9"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.07.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24505293","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}

{"title":"Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation","authors":"Liesbeth Rooms,&nbsp;Edwin Reyniers,&nbsp;Rob van Luijk,&nbsp;Stefan Scheers,&nbsp;Jan Wauters,&nbsp;R.Frank Kooy","doi":"10.1016/j.anngen.2003.10.001","DOIUrl":"10.1016/j.anngen.2003.10.001","url":null,"abstract":"<div><p>Cryptic unbalanced rearrangements involving chromosome ends are a significant cause of idiopathic mental retardation. The most frequently used technique to screen for these subtle rearrangements is Multiprobe fluorescence in situ hybridization (FISH). As this is a labor-intensive technique, we used microsatellite genotyping to detect possible subtelomeric rearrangements in a study population. Out of the 70 patients we screened, three chromosomal rearrangements were detected: a deletion of marker D2S2986, a deletion of marker D7S594 and a deletion of marker D19S424. However, none of these aberrations appeared to be disease causing.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 53-59"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440803","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}

{"title":"Principles of Human Evolution","authors":"Claude Stoll","doi":"10.1016/j.anngen.2004.02.002","DOIUrl":"10.1016/j.anngen.2004.02.002","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Page 104"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83694206","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}

{"title":"Quantification of GRB10 in 7p12-p14 by fluorogenic 5′ nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome","authors":"T. Eggermann,&nbsp;E. Meyer,&nbsp;H.A. Wollmann","doi":"10.1016/j.anngen.2003.07.004","DOIUrl":"10.1016/j.anngen.2003.07.004","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 99-102"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.07.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440763","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}

{"title":"CV2 Editorial Board redaction","authors":"","doi":"10.1016/S0003-3995(04)00023-1","DOIUrl":"https://doi.org/10.1016/S0003-3995(04)00023-1","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Page IFC"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(04)00023-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136942309","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}