Zhang Yun, Xiao Xin-hua, Wang Heng, Wang Tong, Sun Qi, Yang Guo-hua, Fu Yong, Yuan Tao, Zhang Qian, Liu Qiu-ying
Department of Endocrinology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Jun;29(3):370-3.
To explore whether A1168C polymorphisms in paired box gene 4 (PAX4) are associated with type 1 diabetes mellitus (T1DM) in Chinese Han population.
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype A1168C polymorphisms in PAX4 gene. Totally 109 patients with T1DM and 251 control subjects were recruited. The frequency distributions of genotypes between two groups were analyzed by SPSS software.
The genotype distributions were in Hardy-Weinberg equilibrium both among T1DM cases and control subjects. No difference was observed in the genotype frequencies and allele frequencies between T1DM cases and control subjects (P > 0.05), nor was any disease association detected when patients were stratified according to age at diagnosis or sex (P > 0.05).
The A1168C single nucleotide polymorphism in PAX4 gene may not play an essential role in genetic T1DM susceptibility in Chinese Han population.
探讨配对盒基因4（PAX4）中A1168C多态性与中国汉族人群1型糖尿病（T1DM）是否相关。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对PAX4基因的A1168C多态性进行基因分型。共招募了109例T1DM患者和251例对照者。用SPSS软件分析两组间基因型的频率分布。
T1DM患者组和对照组的基因型分布均符合Hardy-Weinberg平衡。T1DM患者组与对照组之间的基因型频率和等位基因频率无差异（P>0.05），根据诊断年龄或性别对患者进行分层时，也未检测到任何疾病相关性（P>0.05）。
PAX4基因中的A1168C单核苷酸多态性可能在中国汉族人群遗传性T1DM易感性中不起重要作用。
