摘要
目的 探讨中国南方汉族人群中 Fcγ受体 a(FcγR a)多态性与系统性红斑狼疮的关联及连锁关系。方法 应用聚合酶链反应 -特异性寡核苷酸杂交的方法 ,对 71例系统性红斑狼疮 (system lupuserythematosus,SL E)患者、6 4名健康对照和 15例 SL E患者及其父母进行了基因分型。对 FcγR a- 131基因多态性进行了研究。结果 (1)携带 FcγR A- R131等位基因和 FcγR a- R/R131基因型者发生 SL E的危险性大 (OR=2 .0 6 ,P<0 .0 1;OR=4.17,P=0 .0 135 ) ;(2 )种族间 FcγR a- 131多态性存在差异 ,中国汉族人与日本人等位基因频率相似 ;(3)家系关联分析和传递不平衡分析结果无统计学意义 ,可能与样本量小有关。结论 FcγR a- 131多态位点是中国南方汉族人群中 SL
Objective To shed light on the relationship between FcγRⅡa 131 and systemic lupus erythematosus(SLE) in southern Chinese Han population. Methods A population based and family based study was carried out. FcγRⅡa 131 of each subject was measured by using PCR allele specific oligonucleotide hybridization(ASO) method. Results (1) The distribution of FcγRⅡA 131 genotype in cases is significantly different from that in controls ( P <0.05). So is the frequency of FcγRⅡa R131 allele( P <0.01) which suggests that subjects who have R131 allele tend to be more susceptible to SLE. The subjects with R/R131 homozygous genotype have a higher risk of suffering from SLE. (2) The distribution of FcγRⅡa 131 varies in different races, with identical distribution type among Chinese and Japanese. (3) The results of family based association analysis and transmitted/disequilibrium test(TDT) suggest that there is not any linkage evidence between FcγRⅡa 131 and SLE. Possibly, the sample size was too small to get positive result. Conclusion This study suggests that FcγRⅡa 131 is a major factor predisposing to the development of SLE in southern Chinese Han population.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2000年第6期409-412,共4页
Chinese Journal of Medical Genetics
关键词
系统性红斑狼疮
FcγRⅡa-131
家系关联分析
连锁
system lupus erythematosus
FcγRⅡa131
family based association study
transmitted/disequilibrium tesd
