【摘要】 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。更多还原

【Abstract】 Objective:Our purpose was to investigate the polymorphism distribution of (CA)n of intron 49 located in dystrophin gene of healthy Han nationality in Northeast China. Methods:Using PCR labeled α 32 P dCTP, we studied the allele polymorphism of (CA)n intron 49 located in dystrophin gene in 42 women and 5 men. Results: We detected 12 allele fragments at the polymorphism of (CA)n of intron 49. The length of the 12 fragments ranged from 230 bp to 250bp. The polymorphism frequencies are A 0.0112, B 0.1573, C 0.0337, D 0.1124 , E 0.0449, F 0.0562, G 0.1011, H 0.1236, I 0.2135, J 0.1124, K 0.0225 and L 0.0112. The providing polymorphism information contents is 87.2%. The heterozygosity frequency is 76.19% (32/42).Conclusion:The polymorphism of (CA)n located in intron 49 is a very important marker in prenatal diagnosis.更多还原