西藏大骨节病高发区家系的遗传流行病学调查与研究

目的：了解西藏大骨节病高发地区大骨节病家系的分布特征和遗传特点,并与当地人群正常家系的遗传背景差异进行比较,探讨遗传与环境因素相互作用的机制。方法：运用分子遗传流行病学手段,收集大样本量的大骨节病家系和正常的对照家系样本,建立详细遗传样本库和家系系谱,采用家族聚集性、系谱分析等方法进行分析。结果：西藏地区大骨节病高发区主要分布在居住条件差的贫困地区,居民以从事农业或半农半牧为主,主要食物以当地青稞为主,饮食结构单一,而且所选择的各高发区间的患病情况也存在差异;发现男女都可发病,男女患病率无明显差异,随着年龄的增长,大骨节病的患病率呈上升的趋势,该病多见于40~59岁年龄段,60岁以上人员患病情况最严重;大骨节病具有明显的家族聚集性,高发家系中随着亲缘级数的减低,患病风险增高,通过家系分析表明,该病不符合经典的孟德尔遗传规律。结论：应改善病区群众的生活条件,提倡合理饮食;显示大骨节病为多基因与环境相互作用的一种复杂性疾病,致病原因中仍需考虑遗传因素。

Epidemiological investigation on Kashin-Beck Disease pedigrees in Tibet

The distribution feature of Kashin-Beck disease＇s pedigrees and genetic characteristics in Tibet was analyzed and compared with local population to exploring the interaction of genetic and environmental variables by using genetic epidemiological tools with large samples of high incidence pedigrees and control family samples.The Results showed that： ①The high incidence of Kashin-Beck disease in Tibet are mainly located in poor areas with poor living conditions,residents engaged in agriculture and the barley-based main staple food;②Both men and women were suffered from KBD,and the prevalence between men and women have no significant difference,the prevalence increase with age and is more common in the 40-59 age group,and the most serious prevalence occur among over 60 years old;③Kashin-Beck disease was obviously familial and the risk of high incidence increase among the pedigrees as reducing of the degree of relatives.In conclusion,the causes of Kashin-Beck disease is closely correlated with people＇s living conditions,therefore living condition in high incidence areas must be improved.Kashin-Beck disease was a complex genetic disorder as well and causes of Kashin-Beck disease still need to consider genetic factors.