论文部分内容阅读
【目的】探讨NLGN4X基因与中国汉族儿童孤独症是否存在相关性,查寻中国汉族儿童孤独症的易感基因。【方法】选取NLGN4X基因3’UTR区两个多态性位点rs5916269和rs3810686作为遗传标记,采用直接测序法对92个孤独症核心家系的276名成员进行基因型测定,并进行传递不平衡检验(TDT)和单倍型相对危险度(HRR)分析。【结果】TDT检验及HRR分析均显示儿童孤独症与rs5916269遗传标记位点不存在传递不平衡(TDTχ2=0.385,P=0.620;HRRχ2=0.345,P=0.557);与rs3810686遗传标记位点存在传递不平衡(TDTχ2=6.368,P=0.015;HRRχ2=5.470,P=0.019)。【结论】NLGN4X基因rs5916269位点与中国汉族儿童孤独症无关;rs3810686位点与中国汉族儿童孤独症相关,NLGN4X基因可能是孤独症的易感基因。
【Objective】 To investigate the relationship between NLGN4X gene and Chinese Han children with autism, and to search for susceptibility genes of Chinese Han children with autism. 【Method】 The two polymorphic sites rs5916269 and rs3810686 in the 3’UTR region of NLGN4X gene were selected as genetic markers. The genotypes of 276 members of 92 autism nuclear families were determined by direct sequencing, and transmission disequilibrium test (TDT) and haplotype relative risk (HRR) analysis. 【Results】 TDT test and HRR analysis showed that there was no imbalance in transmission between autism of children and rs5916269 genetic marker (TDTχ2 = 0.385, P = 0.620; HRRχ2 = 0.345, P = 0.557) Unbalanced (TDTχ2 = 6.368, P = 0.015; HRRχ2 = 5.470, P = 0.019). 【Conclusion】 rs5916269 locus of NLGN4X gene is unrelated to autism in Chinese Han children; rs3810686 locus is associated with autism in Chinese Han children, and NLGN4X gene may be a susceptible gene to autism.