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
{"title":"突尼斯人群中血色素沉着病(HFE)基因C282Y和H63D突变的患病率","authors":"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","doi":"10.1016/j.anngen.2004.05.001","DOIUrl":null,"url":null,"abstract":"<div><p>The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15.17% (±2.1%) for the H63D and 0.09% (±0.17%) for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y. This study will be completed by determining whether homozygote trait for H63D and associated risk factors (ß thalassémia) can lead to iron overload in Tunisia.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.05.001","citationCount":"31","resultStr":"{\"title\":\"Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population\",\"authors\":\"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\",\"doi\":\"10.1016/j.anngen.2004.05.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15.17% (±2.1%) for the H63D and 0.09% (±0.17%) for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y. This study will be completed by determining whether homozygote trait for H63D and associated risk factors (ß thalassémia) can lead to iron overload in Tunisia.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2004-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.anngen.2004.05.001\",\"citationCount\":\"31\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399504000437\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399504000437","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population
The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15.17% (±2.1%) for the H63D and 0.09% (±0.17%) for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y. This study will be completed by determining whether homozygote trait for H63D and associated risk factors (ß thalassémia) can lead to iron overload in Tunisia.
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