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

ABSTRACT

<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>