6020名丹麦族男性中血色素沉着症基因（HFE）变异体C282Y、H63D和S65C的频率
Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men.
作者信息
Pedersen Palle, Melsen Gitte Vedel, Milman Nils
机构信息
Department of Clinical Biochemistry, Naestved Hospital, Ringstedgade 61, 4700 Naestved, Denmark.
出版信息
Ann Hematol. 2008 Sep;87(9):735-40. doi: 10.1007/s00277-008-0506-8. Epub 2008 Jun 10.
The objective was to assess the frequencies of haemochromatosis (HFE) gene mutations or variants C282Y, H63D and S65C in ethnic Danes. This is a prospective epidemiologic population study. A cohort of 6,020 Danish men aged 30-50 years was screened for HFE C282Y (c845G-->A), H63D (c187C-->G) and S65C (c193A-->T) gene variants, assessed on saliva or blood samples by restriction fragment length polymorphism (RFLP) analysis. The C282Y gene variant allele was present in 5.6%, H63D in 12.8% and S65C in 1.8% of the chromosomes. In the entire series, we observed 1.4% H63D/C282Y, 0.1% S65C/C282Y and 0.4% H63D/S65C compound heterozygotes. The C282Y allele frequency in Denmark is of similar order as reported in other Scandinavian countries: Iceland 5.1%, Faeroe Islands 6.6%, Norway 6.8% and Sweden 5.8%. Also, the H63D frequency in Denmark is close to the frequencies in other Scandinavian countries: Iceland 10.9%, Faeroe Islands 15.2%, Norway 11.4% and Sweden 12.1%.
目的是评估丹麦族人群中血色素沉着症（HFE）基因突变或C282Y、H63D和S65C变异的频率。这是一项前瞻性流行病学人群研究。对6020名年龄在30至50岁的丹麦男性队列进行了HFE C282Y（c845G→A）、H63D（c187C→G）和S65C（c193A→T）基因变异筛查，通过限制性片段长度多态性（RFLP）分析对唾液或血液样本进行评估。C282Y基因变异等位基因在5.6%的染色体中存在，H63D在12.8%，S65C在1.8%。在整个系列中，我们观察到1.4%的H63D/C282Y、0.1%的S65C/C282Y和0.4%的H63D/S65C复合杂合子。丹麦的C282Y等位基因频率与其他斯堪的纳维亚国家报告的频率处于相似水平：冰岛5.1%、法罗群岛6.6%、挪威6.8%、瑞典5.8%。此外，丹麦的H63D频率与其他斯堪的纳维亚国家的频率相近：冰岛10.9%、法罗群岛15.2%、挪威11.4%、瑞典12.1%。
Zotero 插件