摘要
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。UC-SNP-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)、GG-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。
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 hequencies 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第1期100-102,共3页
Chinese Journal of Medical Genetics
