应用微卫星DNA基因分型技术进行双生子卵型鉴定  

Use of microsatellites in zygosity diagnosis of twins

作　　者：何鑫[1] 朱鼎良[1] 韩战营[1] 刘晓明[2,3] 王谷亮[1] 初少莉[1] 张伟忠[1] 周怀发[1] 茅守玉[1] 庄启南 赵彦 黄薇 

机构地区：[1]上海第二医科大学附属瑞金医院,上海市高血压研究所 [2]复旦大学遗传学研究所,群体与数量遗传学实验室 [3]国家人类基因组南方研究中心

出　　处：《中华医学遗传学杂志》2001年第6期421-425,共5页Chinese Journal of Medical Genetics

基　　金："8 63"高科技项目 (1 0 2 - 1 0 - 0 2 - 0 3)和 (Z1 9- 0 1 - 0 3- 0 1 A)~~

摘　　要：目的　用微卫星 DNA基因扫描和分型技术建立双生子卵型鉴定法。方法　选取 6 9对同性别双生子、6对异性别双生子和 17对同胞对 ,抽提基因组 DNA。单盲设计 ,随机编号后 ,采用 9对荧光标记的、在中国人群中具有高度杂合度的短串联重复序列 (short tandem repeat,STR)引物 ,进行基因扫描和分型分析 ,根据这 9个 STR基因型的一致性来鉴别卵型。结果　 9个 STR基因型完全一致的 6 3对受检者全部为同性别双生子。 6对异性别双生子和 17对同胞对的 STR基因型均不完全一致。另有 6对同性别双生子的 STR基因型也不完全一致。经计算采用 6个或 5个 STR位点判定同性别同卵双生的可信性分别大于99.6 %和 99%。采用全部 9个位点判定同性别同卵双生的可信性大于 99.95 %。结论　 STR基因扫描和分型技术为在基因组水平上直接判别双生子卵型 ,提供了一种准确、可靠的鉴定方法 ,它还有快速、简便等优点。Objective: To diagnose zygosity of twins by microsatellite polymorphism. Methods: One hundred and eighty-four samples, including 69 pairs of twins with the same gender and 6 pairs of twins with different gender were recruited. Seventeen sib pairs were also collected for controls. Nine highly polymorphic microsatellite loci were amplified by polymerase chain reaction (PCR) using fluorescence-labeled primers and the products were sized by automated fragment analysis after electrophoresis and laser detection. Zygosity was diagnosed by comparing the concordance of the genotype of the 9 markers. Results. Sixty-three pairs of monozygotic (MZ) and 12 pairs of dizygotic (DZ) twins were assigned their zygosity by comparison of polymorphism of 9 microsatellite loci. Within each of the 63 monozygotic (MZ) pairs there was complete concordance. However, within each of the 12 dizygotic pairs and other 17 sib pairs, discordant loci were found. With five or six markers, the probability that any twin pair was MZ if all markers were concordant was 99% or 99.6%, respectively. With all the nine markers, the probability that any twin pair was MZ if all markers were concordant was 99.95%. Conclusion: The technology of gene scan and genotyping provides a rapid and reliable approach to zygosity detection.

关 键 词：双生子 遗传学 卵型鉴定 微卫星DNA 

分 类 号：R394[医药卫生—医学遗传学] Q78[医药卫生—基础医学]