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[目的 ]了解中国朝鲜族人群的Ⅰ型胶原蛋白A 2基因MspI多态性位点的存在和等位基因频率 ,并与其它地区人群进行比较 .[方法 ]按酚 氯抽提法提取人类基因组DNA ,采用聚合酶链反应 限制性片段长度多态性方法对Ⅰ型胶原蛋白A 2基因MspI多态性位点进行检测 .[结果 ]12 0名个体中 ,无酶切位点的纯合个体为 89例 ,P-P-基因型频率为 74 2 % ;有酶切位点的杂合个体为 2 2例 ,P+ P-基因型频率为 18 3% ;有酶切位点的纯合个体为 9例 ,P+ P+ 基因型频率为 7 5 % ;2 4 0个等位基因中MspI酶切位点基因P+ 的频率为 16 7% .[结论 ]延边朝鲜族人群Ⅰ型胶原蛋白A 2基因存在多态性 ,Ⅰ型胶原蛋白A 2基因MspI多态性分布与其它地区人群的分布有所不同 ,可以作为朝鲜族的一个遗传标记 .
[Objective] To investigate the presence and allele frequency of MspI polymorphism of collagen type A 2 gene in Chinese Korean population and to compare with other regions of the population. [Methods] The extraction of human genome DNA was used to detect the MspI polymorphism site of collagen type A 2 gene by polymerase chain reaction restriction fragment length polymorphism. [Results] The homozygous individuals without restriction enzyme sites The frequency of PP genotype was 74 2% in 89 cases. The number of heterozygous individuals with restriction sites was 22 and the frequency of P + P genotype was 18 3%. The homozygous individuals with restriction sites were 9 For example, the frequency of P + P + genotype was 75%. The frequency of MpI gene P + in 240 alleles was 16.7%. [Conclusion] There are many types of collagen A2 gene in Yanbian Korean population The distribution of MspI polymorphism of type A collagen A2 gene is different from the population distribution in other regions and can be used as a genetic marker for Korean.