延边朝鲜族人群Ⅰ型胶原蛋白A2基因MspI多态性位点研究

[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 .

Detection of the polymorphic MspI site at COL1A 2 gene for Korean-Chinese nationality in Yanbian

OBJECTIVE To study the polymorphism and allele frequency of MspI site at COL1A?2 gene for Korean Chinese nationality in Yanbian and contrast to other area population.?METHODS?Human genomic DNA was extracted by using phenol chloroform extracting and polymorphism MspI site at COL1A?2 gene was detected by the PCR RFLP technique.?RESULTS?In 120 Korean Chinese nationality, homozygotes without digestion site were 89 and genotype frequency (P -P -) was 74 2%, heterozygotes with digestion site were 22 and genotype frequency (P +P -) was 18 3%, homozygotes with digestion site were 9 and genotype frequency (P +P +) was 7 5%. The frequency of P + is 16 7% in 240 allele of COL1A?2 gene.?CONCLUSION?The polymorphism site at COL1A?2 gene is associated with Korean Chinese nationality in Yanbian, and the distribution of polymorphism MspI site at COL1A?2 gene is different between Korean Chinese nationality in Yanbian and other areas, so the polymorphism MspI site as genetic marker of Korean Chinese nationality in Yanbian.