【摘要】 目的　研究中国人控制自然杀伤细胞 (natural killer cell,NK)活性的基因是否与人类白细胞抗原等位基因相连锁。方法　 34名健康无关个体 ,2 5～ 6 0岁 ,男 10名 ,女 2 4名 ,用血清学分型方法分析其HL A- A、- B型。31名家系成员 ,2 2～ 70岁 ,男 17名 ,女 14名 ,已经定出了 HL A 、 类及补体型 ,并已知其单倍型。用乳酸脱氢酶释放法测定上述对象的 NK细胞活性。结果　聚类分析发现 ,30杀伤单位 (lysisunit,L U)为区分低及高 NK细胞活性的临界值 ,HL A- B纯合子中低 NK细胞活性频率明显高于 HL A- DR纯合子。发现 HL A- B的一组等位基因 ,包括 HL A- B13、B40、B46、B7和 B5 7,其组内异型纯合子的 NK细胞活性低下。家系资料进一步证实了存在控制 NK细胞低活性基因 ,并与 HL A- B等位基因相连锁 ,呈隐性遗传。结论　中国人也存在与 HL A- B连锁的基因控制 NK细胞活性 ,与之连锁的 HL A- B等位基因部分与白种人不同更多还原

【Abstract】 Objective To study whether there is a relationship between HLA B alleles and low natural killer(NK) cell activity in Chinese. Methods The subjects were 34 unrelated healthy individuals (10 males and 24 females), aged 25 60 years, and 31 individuals (17 males and 14 females) from 11 families, aged 22 70 years, previously genotyped for HLA class Ⅰ, Ⅱ, complotypes and haplotypes that were assigned based on family studies. The unrelated individuals were typed for HLA A, B antigen by a microcytotoxicity assay and all the subjects were tested for NK cell activity by lactate dehydrogenase (LDH) enzyme release assay.Results Statistical analysis showed that 30 lysis unit (LU) was the cutoff value of low and high NK reactors. The frequency of low reactor individuals homozygous for HLA B was significantly higher than that for those for HLA DR( P <0.05). The associated genes included HLA B13,B40,B46,B7,B57, defined as NKB1 genes, and HLA B44 as NKB2 gene. Family studies provide further evidence that the genes controlling low NK cell activity were located in the MHC region and it was a recessive trait.Conclusion There were recessive genes associated with HLA B controlling low NK cell activity in Chinese. The NKB alleles were partly different from those found in Caucasian.更多还原