先天愚型患者21号额外染色体双亲起源的短串联重复序列多态性判断  

Detection of parental origin of extra chromosome 21 in Down syndrome using short tandem repeat polymorphism

作　　者：陈辉[1] 郑红[1] 贺颖[1] 刘华[1] 连建华[1] 张钦宪[2] 

机构地区：[1]郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州450052 [2]郑州大学基础医学院组织学与胚胎学教研室,郑州450052

出　　处：《郑州大学学报（医学版）》2006年第4期672-675,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省自然科学基金资助项目0111022300

摘　　要：目的:用短串联重复序列(STR)D21S11、D21S1270、D21S1437的多态性判断先天愚型患者21号额外染色体的双亲起源。方法:选择先天愚型关键区域(DSCR)内部及其附近的STRD21S11、D21S1270、D21S1437对11个核心家系进行PCR扩增并进行DNA定量分析。结果:先天愚型患者出现1113条或212条DNA电泳带。在9个可确定21号额外染色体来源的家庭中,7名患儿的21号额外染色体来源于母亲,2名来源于父亲。结论:根据这3个遗传标记可确定大多数先天愚型患儿额外染色体的双亲起源,为研究染色体不分离的机制奠定基础。Aim： To detect the parental origin of the extra chromosome 21 in Down syndrome using short tandem repeat （ STR ） polymorphic markers D21Sll, D21S1270, D21S1437. Methods： Three STR （ D21Sll, D21S1270, D21 S1437） loci that were in or near Down syndrome critical region（DSCR） were analyzed and detected by polymerase chain reaction and DNA quantitative analysis in 11 core ancestries. Results： The Downg patients had three 1 ： 1 ： 1 or two 2 ： 1 DNA bands. The parental origin of the extra chromosome 21 was determined in 9 Down syndrome out of 11, with 7 inherited from mother and 2 from father. Conclusion： The parental origin of the extra chromosome 21 can be detected in most Down syndrome using these three loci, and this experiment is helpful to illustrate the mechanism of chromosome nondisjunction.

关 键 词：染色体不分离 先天愚型 双亲起源 

分 类 号：R596.1[医药卫生—内科学]