中国苗族人群原发性血色病的遗传流行病学调查及HLA研究

Genetic epidemiology and HLA survey of primary hemochromatosis among Chinese Miao ethnic

目的 探讨中国苗族人群原发性血色病 (HH)遗传方式和遗传因素在发病中的作用 ,并对有关易感基因与HLA连锁进行研究。方法 对湖南西部及毗邻地区纯苗族人群进行遗传流行病学调查。作共享HLA单倍型及Lods分析。结果 本地区群体患病率 0 48%;4个家系 2 4例患者血糖、血清铁、转铁蛋白等明显增高。 2 4例一、二级亲属咨询分析 ,其患病率为 4 4 45 %,HLA分型为A1、A2 、A3位点。结论 HLA单倍型与随机分布发生显著偏离 ,说明HH致病基因与HLA存在连锁。本组病例遗传方式分析结果 ,不支持常染色体隐性遗传 ,确定为常染色体显性遗传。

Objective To evaluate the inheritance modes and the genetic factors of primary hemochromatosis on its etiology among throngs of Chinese Miao nationality in causing the disease and to study the realtion between the relevant susceptible gene and HLA linkage. Methods To investigation of the genetic epidemioloy among some throngs of pure Miao nationality in western Hunan and the neighbouring areas was carried out and analysis of identical HLA haplotype and Lods was made. Results The population morbidity of this disease in this area is 0.48%. Twenty-four patients found in four families had high plasma glucose levels, and apparently high serum total iron and serum transferrin. The prevalence of hemochromatosis was 44.45% by analysis on the first degree and second degree realtives of the 24 patients. The individual marking of HLA ranges from locus A 1?A 2 to A 3. Conclusion HLA haplotype shows obvious deviation from random distribution, which indicates that there exists linkage between HH pathogenic gene and HLA. The results of genetic analysis in this disease group suggest that hemochromatosis is an autosomal dominant inheritance but not autosomal recessive inheritance disease.