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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 不宜选用做中国人群连锁分析的遗传标记
Objective: To search for the causative genes of human limb muscular dystrophy (LGMD) in China. Methods: Ad-CA genetic marker genotypes of D13S120, D13S141 and 17q21 in the 13q12 region of 50 normal unrelated individuals and 22 members from 3 families of muscular dystrophy families were analyzed by PCR. The heterozygosity and polymorphism information content (PIC) of these three markers were calculated. RESULTS: The heterozygosity of D13S120 and ad-CA markers was found to be high, with PICs of 0.66 and 0.73, and PIC <0.25 for D13S141 in the 13q12 region. Conclusion: The D13S120 and ad-CA markers are valuable genetic markers for prenatal diagnosis of LGMD in Chinese population. D13S141 should not be used as a genetic marker for Chinese population linkage analysis