Single nucleotide polymorphisms and genotype combinations in calpain-10 gene of Korean population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%).</p><p><b>CONCLUSION</b>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.</p>