广东鼻咽癌患者ATM基因127464G/A位点单核苷酸多态性研究

目的:研究ATM基因单核苷酸多态性位点127464G/A与鼻咽癌(nasopharyngeal carcinoma,NPC)的发生关系。方法:应用非变性聚丙烯酰胺凝胶电泳结合测序方法对38例广东NPC患者及40例对照样本ATM基因127464G/A基因分型。结果:在NPC患者及对照个体中G/A杂合型频率分别为57.9%(22/38)、62.5%(25/40),G/G纯合型频率分别为13.2%(5/38)、17.5%(7/40),A/A纯合型频率分别为28.9%(11/38)、20%(8/40)。结论:体细胞ATM基因127464G/A位点变异在广东NPC患者与正常人群中分布差异无统计学意义,推测其与广东NPC的遗传易感性相关性不大。

Study on single nucleotide polymorphisms of ATM Gene 127464G/A site in Cantonese patients nasopharyngeal carcinoma

OBJECTIVE:To study the relationship between the single nucleotide ploymorphisms of Ataxia-telangiectasia mutated(ATM) gene 127464G/A site and the occurrence of Cantonese nasopharyngeal carcinoma(NPC).METHODS:127464G/A genotyping was processed by the methods of non-denaturing polyacrylamide gel electrophoresis and direct gene sequencing,and the blood sqmple were from 38 Cantonese nasopharyngeal carcinoma patients and 40 healthy individuals.RESULTS:The heterozygote G/A genotype frequencies in NPC patients and healthy individuals were 57.89%(44/76) and 51.25%(41/80),the homozygote G/G freqnencies were 13.2 %(5/38) and 17.5 %(7/40),and the homozygote A/A freqnencies were 28.9%(11/38) and 20%((8/40)),respectively.CONCLUSIONS:With the statistics of Chi-square analysis,there are no significant differences between NPC patients and the control samples.The results indicate that somatic ATM gene 127464G/A variants have little relations with the genetic susceptibility in Cantonese nasopharyngeal carcinogenesis.