摘要
目的将人类单纯性先天性心脏病(congenitalheartdefect,CHD)易感基因初步定位,为进一步对其克隆奠定基础。方法在胚胎心脏发育调控相关基因——HOX基因A簇、B簇所在的染色体区域7p14-15、17q21内选择3个微卫星DNA标记D7S1808、D7S673、D17S791,应用荧光标记聚合酶链反应技术扩增微卫星片段,对39个单纯性CHD核心家系的112名成员进行基因型分析,并进行遗传连锁不平衡检验(transmissiondisequilibriumtest,TDT)。结果D7S1808及D7S673这两个位点TDT检验计算χ2值分别为31.3(P<0.005)和11.12(P<0.05),表明此两位点与CHD分别有非常显著和较显著的相关性,而D17S791位点TDT检验计算χ2值为6.56(P>0.05),未检出连锁不平衡。结论人类单纯性CHD与HOXA簇基因位点有关,HOXA簇基因可能是CHD的候选基因,从而将CHD易感基因初步定位于HOXA簇基因的染色体区域7p14-15。
Objective To locate the susceptibility gene of human simple congenital heart defect(CHD) and provide a sound basis for further gene cloning. Methods Three short tandem repeats(STRs) in regions of chromosome 7p1415, 17q21 where exist Hox gene family's A, B clusters which regulate the embryonic heart development were chosen. Genotypes of 112 members in 39 CHD families were analyzed by amplifying the STR fragments using fluorescencePCR technique. Then transmission disequilibrium test (TDT) was used to test the data of genotypes. Results Statistical 2 values of D7S1808, D7S673 and D17S791 were 31.3(P<0.005), 11.12(P<0.05) and 6.65 (P>0.05) respectively. These suggest that the former two are associated with CHD, while the latter is not. Conculsion Human simple CHD is associated with Hox gene A cluster. Hox A gene may be a candidate CHD's susceptive genes. The location of the CHD's susceptive genes is in chromosome 7p1415.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1999年第4期239-241,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
先天性心脏病
连锁不平衡检验
基因定位
Congenital heart defectTransmission disequilibrium testGene location