四川凉山地区彝族家系KIR单体型分析

Family analysis of KIR haplotypes in Sichuan Yi Families

目的了解四川凉山地区彝族家系KIR单体型的基因组成情况。方法采用多重PCR-SSP的方法对89个四川凉山地区彝族家系共364人的16个KIR基因位点进行基因分型;根据KIR基因型结合家系分析推导KIR单体型。对部分样本中某些不能确定拷贝数的KIR基因进行荧光定量PCR分析,再结合家系分析得到其KIR单体型。结果 89个四川凉山地区彝族家系中发现22种KIR基因型,21种单体型,其中3种A单体型,18种B单体型;并发现了2种较为独特的KIR单体型。结论四川彝族家系有其独特的KIR单体型种类,其基因组成具有以下规律:2DL1、2DP1总是和3DP1同时出现;有2DS1时则2DS4缺失,反之亦然;2DS2总是和2DL2同时出现。

To determine the gene content of the KIR haplotypes in Sichuan Yi Families, 364 blood sampleswere collected from 89 Yi Families. The genomic DNA was extracted and genotyping was done for 16 KIR loci bymultiplex PCR-SSP（sequence-specific priming）. KIR haplotypes were deduced according to KIR genotypecombined with family analysis. When the copy number could not be determined for certain samples, both q PCR（quantitative PCR） and family analysis were done to obtain their KIR haplotypes. Data showed that a total of 22 genotypes and 21 haplotypes were identified in Yi Families, including 3 A haplotypes and 18 B haplotypes. Twounique haplotypes were identified in the Yi Families, one is B haplotype lacking structural gene 3DP1, while theother one is variational A haplotype containing 3DP1 v. Through the segregation analysis in the family studies, wefound that the KIR haplotypes of Sichuan Yi Families and Caucasian demonstrated difference in the aspect of types.Thus, it was more precise to use KIR haplotype data obtained from Sichuan Family analysis to deduce itsdistribution in Sichuan populations. Taken together, Sichuan Yi Families share the following characteristics： 1） thepseudogenes 3DP1, 2DP1 and KIR2DL1 show up concurrently; 2） the presence of KIR2DS1 is associated withabsence of KIR2DS4, and vice versa; 3） KIR2DS2 and KIR2DL2 appear concurrently.