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目的 :探讨中国东北地区健康汉族人群 Dystropin基因内含子 49的二核苷酸 CA重复多态分布。方法 :应用同位素 (α- 32 P d CTP)掺入的聚合酶链反应 (polym erase chain reaction,PCR)方法 ,对无遗传关系的东北地区汉族女性 42人 ,男性 5人 ,共 89条 X染色体的 Dystropin基因内含子 49的 (CA) n多态做了研究。结果 :内含子 49的 (CA) n多态中共检测到 12个等位片段 ,长度 2 30～ 2 5 0 bp。多态频率从短片段开始依次为 A0 .0 112、B0 .15 73、C0 .0 337、D0 .112 4、E0 .0 44 9、F0 .0 5 6 2、G0 .10 11、H0 .12 36、I0 .2 135、J0 .112 4、K0 .0 2 2 5、L 0 .0 112。可提供信息量为 87.2 %。实际检测到的杂合子率为 76 .19% (32 /4 2 )。结论 :49(CA) n多态是 DMD基因诊断中非常有意义的遗传标记之一。
Objective: To investigate the dinucleotide nucleotide repeat polymorphism (SNP) distribution of intron 49 of Dystropin gene in healthy Han population of northeast China. Methods: Polymorphic DNA was amplified by polymerase chain reaction (PCR) using isotope (α-32P d CTP). A total of 89 Han chromosomes The Dystropin Intron 49 (CA) n polymorphism was studied. Results: A total of 12 alleles were detected in the (CA) n polymorphism of intron 49, with a length of 230-250 bp. Polymorphic frequencies were A0 .0 112, B0 .15 73, C0 .0 337, D0 .112 4, E0 .0 44 9, F0 .0 5 6 2, G0 .10 11, H0 .12 36, I0 .2 135, J0 .112 4, K0 .0 2 2 5, L0 .0 112. The amount of information available is 87.2%. The actual detected heterozygote rate was 76.19% (32/42). Conclusion: 49 (CA) n polymorphism is one of the most significant genetic markers in the diagnosis of DMD.