Fujihara Junko, Yasuda Toshihiro, Iida Reiko, Takatsuka Hisakazu, Fujii Yoshimi, Takeshita Haruo
Department of Legal Medicine, Shimane University Faculty of Medicine, 89-1 Enya, Izumo, Shimane, Japan.
Leg Med (Tokyo). 2009 Apr;11 Suppl 1:S408-10. doi: 10.1016/j.legalmed.2009.01.073. Epub 2009 Mar 4.
Cytochrome P450 (CYP) 1A1, glutathione S-transferase (GST) M1, and GSTT1 gene polymorphisms have been shown to be associated with several diseases. In this study, CYP1A1 MspI, GSTM1 and GSTT1 gene polymorphisms were investigated in 134 Ovambo and 207 Mongolians, and the results were compared with those from previous studies. Using polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) the frequency of CYP1A1 MspI mutation was determined. The multiplex PCR was used to determine the GSTM1 and GSTT1 polymorphism. The frequencies of wild-type, heterozygous variant and homozygous variant of the CYP1A1 MspI genotypes were 72.4%, 25.4% and 2.2%, and 22.7%, 55.6% and 21.7% in the Ovambos and Mongolians, respectively. The frequencies of GSTM1 (null) and GSTT1 (null) genotypes were 11.2% and 35.8%, and 46.4% and 25.6% in the Ovambos and Mongolians, respectively. The CYP1A1 MspI and GSTT1 (null) genotype distribution of the Ovambos was similar to that of African-Americans and some Caucasians. In contrast, the GSTM1 (null) genotype distribution was different from that of all other populations. Among Mongolians, the CYP1A1 MspI polymorphism showed the highest mutation frequencies, GSTM1 (null) was similar to that of East Asians, and GSTT1 (null) was different from that of almost all the Asians examined.
细胞色素P450(CYP)1A1、谷胱甘肽S-转移酶(GST)M1和GSTT1基因多态性已被证明与多种疾病相关。在本研究中,对134名奥万博人和207名蒙古人的CYP1A1 MspI、GSTM1和GSTT1基因多态性进行了调查,并将结果与先前研究的结果进行了比较。使用聚合酶链反应/限制性片段长度多态性(PCR-RFLP)测定CYP1A1 MspI突变的频率。采用多重PCR测定GSTM1和GSTT1多态性。CYP1A1 MspI基因型的野生型、杂合变异型和纯合变异型在奥万博人中的频率分别为72.4%、25.4%和2.2%,在蒙古人中分别为22.7%、55.6%和21.7%。GSTM1(缺失)和GSTT1(缺失)基因型在奥万博人中的频率分别为11.2%和35.8%,在蒙古人中分别为46.4%和25.6%。奥万博人的CYP1A1 MspI和GSTT1(缺失)基因型分布与非裔美国人和一些高加索人相似。相比之下,GSTM1(缺失)基因型分布与所有其他人群不同。在蒙古人中,CYP1A1 MspI多态性显示出最高的突变频率,GSTM1(缺失)与东亚人相似,GSTT1(缺失)与几乎所有检测的亚洲人不同。