Leal-Ugarte Evelia, Gutiérrez-Angulo Melva, Macías-Gómez Nelly M, Peralta-Leal Valeria, Durán-González Jorge, De La Luz Ayala-Madrigal María, Partida-Pérez Miriam, Barros-Núñez Patricio, Ruiz-Díaz Dinorah, Moreno-Ortiz José M, Peregrina-Sandoval Jorge, Meza-Espinoza Juan Pablo
Unidad Academica de Ciencias de la Salud y Technologia, Universidad Autonoma de Tamaulipas, Sendero Nacional km 3, Matamoros, Tamaulipas, Mexico, CP 87349.
Hum Biol. 2008 Aug;80(4):449-55. doi: 10.3378/1534-6617-80.4.449.
To determine the influence of the MDR1 C3435T polymorphism on the development of childhood acute lymphoblastic leukemia (ALL), we studied 107 children with ALL and 111 healthy subjects. All subjects were genotyped for the C3435T polymorphism using the polymerase chain reaction-restriction fragment length polymorphism method. The genotype frequencies in the patients were 17% homozygous CC, 61% heterozygous CT, and 22% homozygous TT; in healthy individuals the genotype frequencies were 14% CC, 53% CT, and 33% TT. In patients with ALL the allele frequencies were 0.47 for the C allele and 0.53 for the T allele; in the healthy group these allele frequencies were 0.40 and 0.60 for the C and T alleles, respectively. No significant differences in allele frequency (p > 0.176) and genotype frequency (p > 0.255) were detected between the two groups. These findings suggest that the CT or TT genotype does not increase the risk for childhood ALL in Mexican patients. On the other hand, significant differences in allele frequencies were detected in the comparison of Mexican healthy subjects with other populations. Whether these differences are fortuitous or related to diverse genetic backgrounds remains to be elucidated.
为了确定多药耐药基因1(MDR1)C3435T多态性对儿童急性淋巴细胞白血病(ALL)发病的影响,我们研究了107例ALL患儿和111名健康受试者。采用聚合酶链反应-限制性片段长度多态性方法对所有受试者的C3435T多态性进行基因分型。患者的基因型频率为:纯合子CC占17%,杂合子CT占61%,纯合子TT占22%;健康个体的基因型频率为:CC占14%,CT占53%,TT占33%。ALL患者中C等位基因频率为0.47,T等位基因频率为0.53;健康组中C和T等位基因频率分别为0.40和0.60。两组之间在等位基因频率(p>0.176)和基因型频率(p>0.255)方面未检测到显著差异。这些发现表明,在墨西哥患者中,CT或TT基因型不会增加儿童ALL的发病风险。另一方面,在比较墨西哥健康受试者与其他人群时,检测到等位基因频率存在显著差异。这些差异是偶然的还是与不同的遗传背景有关,仍有待阐明。