北京市50例正常男性汉族SRY基因多态性的研究  

Research on SRY genetic polymorphosm of fifty normal men Han Chinese in Beijing

作　　者：孙丽叶[1] 陈彪[2] 李华[1] 

机构地区：[1]烟台毓璜顶医院老年病科,山东264000 [2]北京市首都医科大学宣武医院神经内科

出　　处：《脑与神经疾病杂志》2015年第5期393-395,共3页Journal of Brain and Nervous Diseases

基　　金：国家"973"项目(2006CB500701)

摘　　要：目的筛查中国人群是否存在SRY基因变异,探讨SRY基因变异是否与PD有关。方法通过聚合酶链式反应、变性高效液相色谱测序方法对北京市50例正常男性汉族SRY基因的rs3583729、rs11575897及启动子区进行检测。结果所有DNA标本的PCR产物均未发现基因变异。结论 SRY基因是比较保守的基因,没发现相关多态性位点。Objective To search for the mutations polymorphism of SRY gene in Chinese , and to further investigate the relationship between SRY and PD .Methods 50 Beijing healthy male Han subjects were studied with PCR、DHPLC and sequencing , to screen the alleles of rs 3583729、rs11575897 and any mutation or polymorphism in the promoter region of the SRY gene .Results No genetic variant was found .Conclusion SRY gene sequence is very conservative in Chinese and not likely a susceptibility factor for PD .

关 键 词：SRY 帕金森病 多巴胺能神经元 酪氨酸羟化酶 

分 类 号：R742.5[医药卫生—神经病学与精神病学]