Zhang Z-H, Chen F, Zhang X-L, Jin Y, Bai J, Fu S-B
Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Int J Immunogenet. 2008 Dec;35(6):433-7. doi: 10.1111/j.1744-313X.2008.00803.x.
Protein tyrosine phosphatase non-receptor 22 (PTPN22) is involved in the negative regulation of T-cell responsiveness. Recently, it has been reported that a single nucleotide polymorphism (SNP), C1858T, in the gene PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), is associated with an increased risk of a number of autoimmune diseases. To study the mutant frequency and polymorphism of PTPN22 in Chinese populations, 1085 individuals from 15 Chinese populations distributing widely from north to south were collected. The genotypes of PTPN22-C1858T were determined by polymerase chain reaction-restriction fragment length polymorphism with the digestion of restriction endonuclease RsaI. Of the 1085 individuals, 31 of whom were heterozygote (PTPN22-1858C/T), the frequency of PTPN22-1858T allele in those tested individuals was 1.43%. Moreover, the frequencies of PTPN22-1858T had significant variance in 15 populations of China (chi(2) = 74.1650, P < 0.01).
蛋白酪氨酸磷酸酶非受体22（PTPN22）参与T细胞反应性的负调控。最近，有报道称，编码淋巴样蛋白酪氨酸磷酸酶（LYP）中第620位精氨酸突变为色氨酸的PTPN22基因中的单核苷酸多态性（SNP）C1858T，与多种自身免疫性疾病的风险增加有关。为研究中国人群中PTPN22的突变频率和多态性，收集了来自中国南北广泛分布的15个群体的1085名个体。采用聚合酶链反应-限制性片段长度多态性方法，用限制性内切酶RsaI消化，测定PTPN22-C1858T的基因型。在1085名个体中，31人为杂合子（PTPN22-1858C/T），受试个体中PTPN22-1858T等位基因频率为1.43%。此外，PTPN22-1858T在中国15个群体中的频率存在显著差异（χ2 = 74.1650，P < 0.01）。
