Hou Xingsheng, Gao Chen, Zhang Baoyun, Zhou Wei, Liu Hong, Dong Xiaoping
Institute of Virology, Chinese Academy of Preventive Medicine, Beijing 100052, China.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2002 Jun;16(2):105-8.
An amino acid polymorphism for Met to Val has been identified at PrP codon 129 from different human races. In this study,the characteristics of polymorphism of PRNP 129th amino acid in Han and Uighur Chinese have been investigated.
Human DNAs were extracted from peripheral lymphocytes and PrP gene fragments were amplified with a specific PCR protocol. The distribution of 129th amino acid in PRNP was determined by a PCR-RFLP and the results were analyzed with software SAS for Windows 6.12.
The frequencies of the allele 129 Met and 129 Val were 97.0% and 3.0% in Han Chinese, whereas 91.4% and 8.6% in Uighur Chinese. The frequency of 129 M/M phenotypes in Han Chinese was significantly higher than that in Uighur Chinese (P=0.0490). Comparing the phenotype distributions of codon 129 of Han Chinese with that of Japanese and Caucasian, there was significant difference with Caucasian (P=0.0005),but there was no difference with Japanese (P=0.5040).
The polymorphism of 129th amino acid in PRNP of Han Chinese is similar to Japanese, but different from Uighur Chinese.
在不同人类种族的朊蛋白（PrP）密码子129处已鉴定出甲硫氨酸（Met）到缬氨酸（Val）的氨基酸多态性。在本研究中，对汉族和维吾尔族人群中PRNP第129位氨基酸的多态性特征进行了研究。
从外周淋巴细胞中提取人类DNA，并采用特定的聚合酶链反应（PCR）方案扩增PrP基因片段。通过PCR-限制性片段长度多态性（RFLP）测定PRNP中第129位氨基酸的分布，并使用Windows 6.12版的SAS软件分析结果。
汉族人群中129Met和129Val等位基因的频率分别为97.0%和3.0%，而维吾尔族人群中分别为91.4%和8.6%。汉族人群中129 M/M表型的频率显著高于维吾尔族人群（P = 0.0490）。将汉族人群密码子129的表型分布与日本人和高加索人的表型分布进行比较，与高加索人有显著差异（P = 0.0005），但与日本人无差异（P = 0.5040）。
汉族人群PRNP第129位氨基酸的多态性与日本人相似，但与维吾尔族人群不同。
