摘要
目的：寻找中国人肢带型肌营养不良（ＬＧＭＤ）的致病基因。方法：应用ＰＣＲ技术对５０名正常无关个体和２２ 名来自３ 个肢带型肌营养不良症家系的成员，进行了１３ｑ１２ 区的Ｄ１３Ｓ１２０，Ｄ１３Ｓ１４１ 以及１７ｑ２１ 区的ａｄ－ＣＡ遗传标记基因型分析，对此３ 个标记的杂合度和多态性信息含量（ＰＩＣ）进行了计算。结果：发现Ｄ１３Ｓ１２０ 和ａｄ－ＣＡ标记的杂合度较高，ＰＩＣ为０．６６ 和０．７３，１３ｑ１２区的Ｄ１３Ｓ１４１ 的ＰＩＣ＜ ０．２５。结论：Ｄ１３Ｓ１２０和ａｄ－ＣＡ 标记是中国人群开展ＬＧＭＤ产前诊断的有价值的遗传标记，Ｄ１３Ｓ１４１
Objective:This paper was to find the susceptive gene of limb girdle muscular dystrophy (LGMD) in Chinese. Methods:Using PCR, the genotype of 50 unrelated normal persons and 22 subjects of three LGMD pedigrees was analyzed at D13S141, D13S120 and ad CA which is in the adhalin (a sarcoglycan) gene intron 6, and the polymorphism information content (PIC) was calculated. Results:The results showed that the heterozygosity at D13S120 and ad CA markers is very high,and the PIC are 0.66 and 0.73 respectively,but the PIC at D13S141 is only 0.14. Conclusion:The former two markers will play important role in the prenatal diagnosis of LGMD in Chinese.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
1999年第5期329-331,共3页
Journal of China Medical University
关键词
肢带型
肌营养不良
遗传标记
多态性研究
limb girdle muscular dystrophy
genetic marker
polymorphism information content
