Montero Regina, Araujo Antonio, Carranza Paloma, Mejía-Loza Vanessa, Serrano Luis, Albores Arnulfo, Salinas Juan E, Camacho-Carranza Rafael
Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, P.O. Box 70228, Mexico City 04510, Mexico.
Hum Biol. 2007 Jun;79(3):299-312. doi: 10.1353/hub.2007.0037.
The genotype frequencies of three metabolic polymorphisms were determined in a sample of a typical community in central Mexico. CYP1A13, GSTM1, and GSTT1 polymorphisms were studied in 150 donors born in Mexico and with Mexican ascendants; with respect to ethnicity the subjects can be considered Mestizos. PCR reactions were used to amplify specific fragments of the selected genes from genomic DNA. An unexpected 56.7% frequency of the CYP1A13 allele (which depends on the presence of a Val residue in the 462 position of the enzyme, instead of Ile) was found, the highest described for open populations of different ethnic origins (i.e., Caucasian, Asian, African, or African American). The GSTM1 null genotype was found with a frequency of 42.6%, which is not different from other ethnicities, whereas the GSTT1 null genotype had a frequency of 9.3%, one of the lowest described for any ethnic group but comparable to the frequency found in India (9.7%). The frequency of the combined genotype CYP1A13/3 and the GSTM1 null allele is one of the highest observed to date (or perhaps the highest): 13.7% among all the ethnicities studied, including Caucasians and Asians, whereas the combination of CYP1A13/3 with the GSTT1 null allele reached only 2.8%. The GSTM1 null allele combined with the GSTT1 null allele, on the other hand, has one of the lowest frequencies described, 4.24%, comparable to the frequencies found in African Americans and Indians. Finally, the combined CYP1A13/3, GSTM1 null allele, and GSTT1 null allele genotype could not be found in the sample studied; it is assumed that the frequency of carriers of these combined genotypes is less than 1%. CYP1A13 and CYP1A12 polymorphisms were also evaluated in 50 residents in a community of northern Mexico; the CYP1A13 frequency was 54%, similar to that found in the other community studied, and the CYP1A12 frequency was 40%, which is high compared to Caucasians and Asians but comparable to the frequency found in Japanese and lower than the frequency found in Mapuche Indians. Haplotype frequencies for these CYP1A1 polymorphisms were estimated, and a linkage disequilibrium value (D) of 0.137 was calculated.
在墨西哥中部一个典型社区的样本中,测定了三种代谢多态性的基因型频率。对150名出生在墨西哥且有墨西哥裔祖先的捐赠者进行了CYP1A13、GSTM1和GSTT1多态性研究;就种族而言,这些受试者可被视为梅斯蒂索人。采用聚合酶链反应(PCR)从基因组DNA中扩增所选基因的特定片段。发现CYP1A13等位基因的频率出人意料地达到56.7%(该等位基因取决于酶的462位存在缬氨酸残基而非异亮氨酸),这是不同种族(即高加索人、亚洲人、非洲人或非裔美国人)公开人群中报道的最高频率。发现GSTM1无效基因型的频率为42.6%,与其他种族无差异,而GSTT1无效基因型的频率为9.3%,是所有种族中报道的最低频率之一,但与印度人群中发现的频率(9.7%)相当。CYP1A13/3组合基因型与GSTM1无效等位基因的频率是迄今为止观察到的最高频率之一(或许是最高的):在所有研究的种族(包括高加索人和亚洲人)中为13.7%,而CYP1A13/3与GSTT1无效等位基因的组合频率仅为2.8%。另一方面,GSTM1无效等位基因与GSTT1无效等位基因组合的频率是报道的最低频率之一,为4.24%,与非裔美国人和印度人群中的频率相当。最后,在所研究的样本中未发现CYP1A13/3、GSTM1无效等位基因和GSTT1无效等位基因的组合基因型;据推测,这些组合基因型携带者的频率低于1%。还对墨西哥北部一个社区的50名居民进行了CYP1A13和CYP1A12多态性评估;CYP1A13频率为54%,与另一研究社区中发现的频率相似,CYP1A12频率为40%,与高加索人和亚洲人相比偏高,但与日本人中发现的频率相当,且低于马普切印第安人中发现的频率。估计了这些CYP1A1多态性的单倍型频率,并计算出连锁不平衡值(D)为0.137。