Genetic polymorphism of the PRODH and 5-HT(2A) receptor gene in Korean-Chinese and Han nationality in Chinese Yanbian area / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphisms distribution of genes related with mental diseases, such as proline dehydrogenase gene (PRODH) and serotonin 2A(5-HT(2A)) receptor gene, among Korean-Chinese and Han nationality in Chinese Yanbian area.</p><p><b>METHODS</b>By utilizing techniques of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the polymorphisms for -1945 region of the PRODH gene and -1438 region of the 5-HT(2A) receptor gene were analyzed.</p><p><b>RESULTS</b>The PRODH genotype frequencies of MM, Mm and mm in Korean-Chinese population were 61.4%,34.4%,4.2% respectively, the allele frequencies were 0.786 for M and 0.214 for m respectively, and those in Han population were 55.2%,38.5%,6.3%, 0.745 and 0.255 respectively. The 5-HT(2A) receptor gene genotype frequencies of AA, AG and GG in Korean-Chinese population were 15.6%,67.7%,16.7% respectively, the allele frequencies were 0.495 for A and 0.505 for G respectively, and those in Han population were 11.5%,65.6%,22.9%, 0.443 for A and 0.557 for G.</p><p><b>CONCLUSION</b>All of the genotype distribution of both loci in Chinese Korean and Han nationality in Yanbian area meet Hardy-Weinberg equilibrium, and show stronger ability in human identity. The data obtained can be used in human identity, paternity testing and Chinese Korean ethnic group study.</p>

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

<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>

Genetic polymorphisms of Penta D and E loci in Korean racial Chinese of Yanbian area in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze genetic polymorphisms of Penta D and E loci in Korean racial Chinese of Yanbian area.</p><p><b>METHODS</b>One hundred unrelated individuals of Korean racial Chinese were analyzed by methods of PCR and restriction fragment length polymorphism.</p><p><b>RESULTS</b>Eight alleles and 22 genotypes were observed from Penata D locus, and 16 alleles and 35 genotypes were observed from Penta E locus.</p><p><b>CONCLUSION</b>The distribution of two locus genotypes in Korean racial Chinese of Yanbian area met Hardy-Weinberg equilibrium. And the obtained data can be used to individual identity, paternity testing and the study of Korean ethnic group of Chinese population.</p>

Genetic polymorphisms of the CYP450 1A1, CYP450 2E1, GSTM1, GSTT1, and GSTP1 in Korean / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>This is an investigation on the polymorphism distribution of genes related with metabolism, such as cytochrome P450 1A1 (CYP1A1), CYP2E1, glutathione S-transferase M1 (GSTM1), GSTT1 and GSTP1 among the Korean public.</p><p><b>METHODS</b>The techniques of polymerase chain reaction-restriction fragment length polymorphism were adopted. The authors analyzed the polymorphisms for 3-flanking region of CYP1A1 gene by the restriction endonuclease MspI, for 5-flanking region of the gene of CYP2E1 by PstI, for GSTP1 by BsmAI, and for the presence of GSTM1 and GSTT1 genotype to evaluate the gene types and calculate their frequencies in 300 healthy university students.</p><p><b>RESULTS</b>The CYP1A1 genotype frequencies for types of m1/m1, m1/m2, and m2/m2 are 39.7%, 49.7%, and 10.7% respectively, with the allele frequencies 0.645 for m1 and 0.355 for m2. The CYP2E1 genotype frequencies are 66.7% for type of c1/c1, 30% for type of c1/c2, 3.3% for type of c2/c2 with the allele frequencies 0.818 for C1 and 0.182 for C2. The null type frequency is 53.3% for gene GSTM1 and 54.7% for gene GSTT1. The genotype frequencies of GSTP1 is 62% for the type of Ile/Ile, 34.3% for the type of Ile/Val, 3.7% for the type of Val/Val, and the allele frequencies are 0.792 for IIe and 0.208 for Val. All of the gene distribution matched the equilibrium law of Hardy-Weinberg.</p><p><b>CONCLUSION</b>The genetic distribution of the genes in Korean is similar to the distribution of those in Chinese; more than half of the Korean in the study sample lack GSTM1 and GSTT1; the frequency for GSTM1 and GSTT1 null type of Korean is 3 times that of Indian.</p>