摘要 ：

多年来，复发性自然流产(RSA)的发病机制一直不甚明了。部分既往研究显示，杀伤细胞免疫球蛋白受体(KIR)基因家族与复发性自然流产相关，然而机制并不十分清楚。本研究是对110名不明原因的复发性流产的中国汉族女性和105名健康的中国汉族女性进行人类KIR和HLA-C基因(HLA-C)检测。研究目的是为了明确是否某种特定类型的基因与流产的发生具有相关性。结果显示，KIR基因和KIR单倍型的频率在两组之间无统计学差异。然而，与对照组相比，在流产大于3次的女性中KIR3DL1基因出现的频率明显减少，BB单倍型频率明显增高;与对照组相比，复发性流产组HLA-C2C2在KIR AB型和KIR BB型明显增加。在复发性流产组中，具有HLA-C2C2纯合子的女性2DS1基因频率较健康对照更高。抑制基因的减少和增加激活的联合作用，会导致子宫自然杀伤细胞活化，从而降低胎儿存活率。本研究是第一个在中国汉族女性中论证母体KIR和HLA-C基因与复发性流产关系的报告。研究表明，流产次数超过3次的女性可作为复发性流产研究的选择标准，其具有更高的研究价值。

附原文：

The underlying mechanism of recurrent spontaneous abortion (RSA) has remained elusive for many years. Several previous studies have suggested that the killercell immunoglobulin receptor (KIR) gene family is associated with RSA, however, it is not clear exactly how. The present study detected KIR and human leukocyteantigen-C (HLA-C) genes in 110 Han Chinese women with unexplained RSA and 105 Han Chinese healthy females. The aim of the present study was to determine if certain genotypes were more susceptible to the occurrence of miscarriage. The frequency of KIR genes and different KIR haplotypes in the 2 groups demonstrated no statistical differences. However, in women who had miscarried ≥3 times, the frequency of KIR3DL1 was significantly reduced and the BB haplotype frequency was significantly higher compared with the control group. HLA-C2C2 was significantly increased in the KIR AB and KIR BB groups in the RSA groups compared with the control group. The reduction of inhibitory gene and increased activation combinations may induce the activation of uterine natural killercells, which may reduce the probability of fetal survival. To the best of our knowledge, the present study is the first report demonstrating the association between maternal KIR and HLA-C genes and RSA in women of a Han Chinese ethnicity. The present study revealed that females who miscarry ≥3 times may be used as selection criteria for RSA and so may exhibithigher research value.

引自：Su N, et al. Maternal natural killer cellimmunoglobulin receptor genes and human leukocyte antigen-C ligands influence recurrent spontaneous abortion in the Han Chinese population. Exp Ther Med. 2018 Jan; 15(1): 327-337.