韩国人calpain-10基因单核苷酸多态性及其组合型的分析

目的分析发现于墨西哥裔美国人群中的2型糖尿病易感基因calpain-10单核苷酸多态性（single nucletide polymorphism。SNP）及其组合型在韩国人群中的分布。方法采用聚合酶链式反应．限制性片段长度多态性技术，分析312名健康韩国人calpain-10基因UCSNP-43、-19、-63位点的基因型及其组合型，计算基因型、等位基因和组合型频率。结果UCSNP-43位点基因型频率为1／1型的是86．2％、1／2型的是13．5％、2／2型的是0．3％，等位基因频率为G的是0．930、A0．070。UCSNP-19位点基因型频率为1／1型的是9．9％、1／2型的是44．6％、2／2型的是45．5％，等位基因频率为D的是0．322、I的是0．678。UCSNP-63位点基因型频率为1／1型的是57．4％、1／2型的是35．9％、2／2型的是6．7％，等位基因频率为C的是0．754、T的是0．246。各基因型分布匀符合Hardy-Weinberg平衡定律。韩国人中上述3个单核苷酸多态性基因型组合类型共见12种，75．6％由3种基因型组合构成。按UCSNP-43，-19，-63排列，分别为GG-DI-CC（单倍型组合111／121）、GG-DI-CT（112／121）、GC-II-CC（121／121），其频率分别为10．6％、28．8％、36．2％。结论韩国人calpain-10基因SNP分布与白人、美籍墨西哥人及美籍Pima印第安人等种族间存在较大差异，与中国和日本人群较为相近，其112／121单倍型组合频率显著高于美籍墨西哥人。

Single nucleotide polymorphisms and genotype combinations in calpain-10 gene of Korean population

Objective This is an investigation made in Korean population with regard to the distribution of the single nucleotide polymorphisms (SNPs) in calpain-10 gene that was discovered in Mexican American. Methods By utilizing the techniques of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), the authors analyzed the polymorphisms for calpain-10 SNP-43,-19 and-63 genotype, evaluated the gene types, and calculated their frequencies and combined genotypes in 312 healthy Korean. Results The calpain-10 UCSNP-43 genotype frequencies for types 1/1, 1/2, and 2/2 were found to be 86.2%, 13.5%, and 0.3% respectively, with the allele frequencies 0.930 for G and 0.070 for A. The UCSNP-19 genotype frequencies were 9.9% for type 1/1, 44.6% for type 1/2, 45.5% for type 2/2, with the allele frequencies 0.322 for D and 0.678 for I. The UCSNP-63 genotype frequencies were 57.4% for type of 1/1, 35.9% for type of 1/2, 6.7% for type of 2/2, with the allele frequencies 0.754 for C and 0.246 for T. All of the gene distributions matched the equilibrium law of Hardy-Weinberg. A total of 12 genotype combinations of three SNPs were observed in Korean. Seventy-five point six per cent of the Korean was composed of three genotype combinations in the order of UCSNP-43,-19 and-63, i.e., GG-DI-CC(haplotype combination 111/121, frequency=10.6%), GG-DI-CT(haplotype combination 112/121, frequency=28.8%), and GG-II-CC(haplotype combination 121/121, frequency=36.2%). Conclusion The distribution of SNPs in calpain-10 gene in Korean is similar to that in Chinese and Japanese, but different from that reported in Caucasian, American Mexicans and American Pima Indians.