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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。
OBJECTIVE: To investigate the distribution and genetic characteristics of Kaschin-Beck disease pedigrees in areas with high prevalence of Kashin-Beck disease in Tibet and to compare the genetic background differences with the normal families in local populations to explore the mechanism of the interaction between genetic and environmental factors. Methods: Molecular genetic epidemiology was used to collect a large sample of KBD family and normal control pedigree samples, and to establish a detailed genetic sample library and pedigree genealogy. Family aggregation and pedigree analysis were used to analyze the data. Results: The prevalence of Kashin-Beck disease in Tibet was mainly in poverty-stricken areas with poor living conditions. Residents mainly engaged in agriculture or semi-farming and semi-grazing. The main food was mainly local barley, with a single diet. Of the prevalence of the disease there are differences; found that both men and women can be the incidence of men and women prevalence no significant difference with age, Kashin-Beck disease prevalence was on the rise, the disease more common in the 40 to 59 age group , Prevalence of the most serious illness over the age of 60; Kashin-Beck disease has a significant familial aggregation, high incidence of family with the relatives of the series to reduce the risk of illness increased by pedigree analysis shows that the disease does not meet the classic Meng Genetics of Del. Conclusion: The living conditions of the ward people should be improved and a reasonable diet should be promoted. Kashin-Beck disease is a complex disease with the interaction of multiple genes and the environment. Genetic factors still need to be considered in the cause of the disease.