摘要
目的 :对重庆地区先天性心脏病 (简称先心病 )的家系进行筛查 ,以探讨先心病家系的遗传关系。方法 :在群体调查中收集重庆地区资料凡一个家系中有 2例及 2例以上先心病患者 ,对高发家系绘制家系谱图 ,对无证者及其一、二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 ,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)。一、二级亲属先心病先证者条件患病率 ,其中一级亲属为 16 .4 9% (16 / 97) ,二级亲属先证者条件患病率为 1.89% (5 / 2 6 5 ) ,一、二级亲属先证者条件患病率比较 ,差异有显著性 (χ2 =2 7.73,P <0 .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先证者条件患病率越高 ;同时 ,由于我们的调查在独生子女或双胎的状态中进?
Objective:To investigate the family history of congenital heart disease (CHD) in Chogqing for studying the genetic relation of CHD families. Methods:The materials were collected from the population survey about families with more than one members being CHD patients. Map pedigrees for high-risk families were made. The probands and the first and second grade relatives were asked to fill in questionnaires and the high-risk families were analyzed. Results:In the survey of 4387 families, there were 21 high-risk families in which the disease types of the relative patients were inconsistent with those of the probands, the coincidence being 33.33%(7/121).The incidence rates of the first and second grade relatives were 16.49%(16/78),1.89%(5/265) respectively and their difference was significant ( χ 2=27.73, P <0.001).The inheritance way of high-risk CHD was analyzed by Emery AEH segregation analysis.The result was in accordance with autosomal dominane monogenic inheritance(AD).But the number of sibling was not in the matural state so it was not in agreement with the fact.Autosomal recessive inheritance was difficult to be predicted because few family samples remained and Y-lined inheritance were not in accordance with the actual investigation,so sex-linked inheritance could be excluded.Conclusions:The CHD family investigation of Chongqing region does not show the regional difference but shows family aggregation.The incidence rate of the relatives is related to the extent of the relation.The higher the extent of the relation to the proband,the higher the incidence rate.At the same time,because our investigation are undertaken in the families with single child or twins,which are not in accordance with the natural state,it brings new problems to genetic epidemiology and new methods for clinical application are needed.
出处
《重庆医科大学学报》
CAS
CSCD
2003年第4期440-443,共4页
Journal of Chongqing Medical University
基金
国家 8 63攻关项目"先天性心脏病的遗传家系调查及相关致病基因的研究"合作项目资助
关键词
先天性心脏病
遗传
家系调查
Congenital heart disease
Heredity
Family investigation
