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目的对广西地区先天性心脏病((congenital heart disease,CHD))高发家族系统进行筛查,以探讨高发CHD家族系的遗传方式。方法收集广西地区CHD患者资料,对其先证者及其一、二级家属成员进行逐个筛查,并填写CHD核心高发家族系登记表,对一个家系中有2例及2例以上CHD患者的高发家族系绘制家系图谱,并对高发家族系进行分析。结果高发家族系49例。高发家族系中一、二级亲属CHD患病率为6.29%(71∕779),其中一级亲属的患病率为20.60%(41∕199),二级亲属的患病率为5.00%(30∕580),一、二级亲属患病率进行比较,差异有统计学意义(χ2=42.59,P<0.001)。结论广西地区CHD家族系调查中尚未发现有地区差异,但有家族聚集现象,与先证者血缘关系越近的亲属患病率越高。
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广西地区先天性心脏病家族遗传聚集现象分析
Analysis of the familial aggregation phenomena of congenital heart disease in Guangxi Zhuang region
微创医学 201303期 页码：259-262
作者机构： 广西医科大学第一附属医院心胸外科
基金信息： 收稿日期: 2013-03-04 基金项目: 广西自然科学基金( 合同号: NO． 2010GXNSFB 013063)
- 中文简介
- 英文简介
- 参考文献
Objective To screen out the families with high risk of congenital heart disease ( CHD) in Guangxi Zhuang region，and then to investigate the hereditary mode of CHD． Method The information of families that were with more than one CHD patient were collected，forms of questionnaire were filled，then the maps of pedigree were drew，the CHD probands as well as the first and second degree of the family members were checked，and the heredity of CHD were analyzed． Ｒesults Information from 140 CHD patients and 49 families with high risk of CHD were collected． The prevalence of CHD among the first-and second-degree members in the high-risk families was 6． 29% ( 71 /779) ． The prevalence of CHD among the first-degree family members was 20． 60% ( 41 / 199) ，5． 00% ( 30 ∕ 580) among the second-degree，and the difference between the two groups was statistically significant ( X2 = 42． 59，P ＜ 0． 001) ． Conclusion The prevalence of CHD in Guangxi Zhuang region shows the pattern of familial aggregation，but without regional difference． CHD incidence among the members in high-risk family is related to the kinship to proband，i． e． the closer relation，the higher CHD incidence．
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