中国人22q11区微卫星多态性及在法洛四联症/肺动脉闭锁基因诊断中的应用  

Polymorphism of microsatellite among Chinese population and its application in gene diagnosis of TOF/PA

作　　者：徐让[1] 陈树宝[1] 顾学范[1] 王荣发[1] 杨健萍[1] 高伟[1] 余志庆[1] 

机构地区：[1]上海第二医科大学新华医院儿科,200092

出　　处：《上海医学》2000年第10期585-588,共4页Shanghai Medical Journal

摘　　要：目的　检测中国人 2 2 q1 1区微卫星多态性、法洛四联症 /肺动脉闭锁 (TOF/PA)病人 2 2 q1 1区基因的缺失以及缺失片段与疾病表型之间的关系。方法　选取 5个微卫星DNA标记D2 2S42 0、D2 2S941、D2 2S944、D2 2S31 1、D2 2S30 6 ,分析了 5 0例正常人与 1 0例TOF/PA患儿及其父母的等位基因片段 ,并进行家系分析。结果　 2 / 1 0例 (2 0 % )TOF/PA病人存在 2 2 q1 1区基因缺失 ,均为母源性缺失 ;没有基因缺失的病人与存在基因缺失的病人的临床表现没有明显差异。结论　TOF/PA中 2 / 1 0 (2 0 % )存在基因缺失 ,缺失片段的有无与疾病的严重程度无明显相关 。Objective To detect the polymorphism of 22q11 microsatellite in Chinese population and to determine the incidence of chromosome 22q11 deletion in Chinese children with TOF/PA and the effect of the deletion on the severity of TOF. Methods 10 patients with TOF/PA and their parents and 50 normal controls were investigated for chromosome 22q11 deletion by genotype and haplotype analysis with five polymorphic microsatellite markers, D22S420 D22S941 D22S944 D22S311 D22S306.Results Deletion of chromosome 22q11 was identified in 2 of 10 patients (20%). Both of the deletions were derived from their mothers. There was no correlation between presence or absence of allelic deletion and the severity of TOF.Conclusion 2/ 10(20%) of patients with TOF/PA carry chromosome 22q11 deletion. There was no correlation between presence or absence of allelic deletion and the severity of TOF/PA. A large sample study is warranted to verity these observations.(Shanghai Med J, 2000,23∶585 588)

关 键 词：法洛四联症 基因诊断 22q11区 微卫星标记 

分 类 号：R541.1[医药卫生—心血管疾病]