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目的 :对重庆地区先天性心脏病 (先心病 )的家系进行筛查 ,以探讨先心病家系的遗传模式。方法 :在群体调查中收集重庆地区先心病资料 ,对一个家系中有 2例及 2例以上先心病患者的高发家系绘制家系谱图 ,对先证者及其一、二和三级亲属成员逐个筛查 ,填写个案调查表 ,对高发家系进行分析。结果 :调查了 4 387个家系中有 2 1个高发家系 ,均无三级亲属 ,其中亲属患者的病种与先证者不完全一致 ,符合率为 33.33% (7/ 2 1)。先心病先证者的亲属患病率分别是一级亲属为 16 .4 9% (16 / 97) ,二级亲属为 1.89% (5 / 2 6 5 ) ,一、二级亲属患病率比较 ,差异有统计学意义 (χ2 =2 7.73,P <0 .0 1)。采用EmeryAEH分离分析法对高发先心病的遗传方式进行分析 ,结果符合常染色体单基因显性遗传 ,但同胞数不符合自然状态 ,故不能肯定其常染色体显性遗传方式 ;常染色体隐性遗传因剩下的家系样本太少 ,难以预测 ;而性连锁遗传中 ,Y连锁伴性遗传和X连锁遗传 ,与实际调查不符 ,可排除这种遗传方式。结论 :重庆地区先心病家系调查尚未发现地区差别 ,但有家族聚集现象 ,其亲属发病率高低与血缘关系近远相关 ,与先证者血缘关系越近的亲属患病率越高 ;同时 ,由于调查在独生子女或双胞胎中进行 ,不符合自然状态 ,为遗传流行病学?
Objective: To screen the pedigrees of congenital heart disease (CHD) in Chongqing in order to explore the genetic model of CHD. Methods: The data of CHD in Chongqing were collected from a population survey. Pedigrees of high incidence families with CHD in two cases and two cases of CHD were drawn in the population survey. The probands, members of one, two and three relatives One by one screening, fill in the case questionnaire, analysis of high incidence of pedigrees. Results: There were 21 out of 4 387 pedigrees with no third - degree relatives. Among them, the relatives were not exactly the same as the probands, and the coincidence rate was 33.33% (7/21). The prevalence of proband’s proband was 16.49% (16/97) for first-degree relatives and 1.89% (5/265) for second-degree relatives respectively. The prevalence of first and second-degree relatives , The difference was statistically significant (χ2 = 2 7.73, P <0.01). EmeryAEH separation analysis of genetic patterns of congenital heart disease was analyzed, the results consistent with autosomal dominant single gene dominant, but the number of siblings does not meet the natural state, it can not be sure its autosomal dominant inheritance; autosomal recessive inheritance The rest of the pedigree sample too few, unpredictable; and sex-linked inheritance, Y-linked sex and X-linked inheritance, and the actual survey does not match, you can rule out this way of inheritance. Conclusion: There is no regional difference in the survey of CHD in Chongqing, but familial aggregation is found. The incidence of relatives is closely related to blood relationship, and the closer relatives of probands are, the higher the prevalence of kinship is. Surveys are conducted in only children or twins, not in line with the natural state, for genetic epidemiology?