Christiansen O B, Riisom K, Lauritsen J G, Grunnet N, Jersild C
Department of Clinical Immunology, Aalborg Hospital, Denmark.
Tissue Antigens. 1989 Sep;34(3):190-9. doi: 10.1111/j.1399-0039.1989.tb01736.x.
Histocompatibility typing was done on 63 women with idiopathic, recurrent abortions (greater than or equal to 3 consecutive, spontaneous abortions; summarized abortion rate: 92.8%), 112 of their full siblings and 101 parents. The distribution of full sisters sharing 2, 1 and 0 of the probands' haplotypes diverged from expected Mendelian segregation (p less than 0.05). Sisters sharing both the probands' haplotypes had an abortion rate of 59.1%, haploidentical sisters had an abortion rate of 25.0% whereas 6.3% of the pregnancies of the 0 haploidentical sisters had ended in miscarriage. The probands' HLA haplotypes included a significant (p less than 0.02) excess of HLA-A, B haplotypes which have previously been shown to exhibit features of positive linkage disequilibrium in Danes. Analysis of abortion rates among the probands and their siblings indicate that the idiopathic recurrent abortion syndrome and probably also the tendency to some sporadic abortions are inherited conditions determined by genes in the HLA region. The presented data may be compatible with an additive polygenic mode of inheritance with exclusive or predominant phenotypic expression in females controlled by an HLA linked spontaneous abortion susceptibility region (SASR).
对63名患有特发性复发性流产（连续3次及以上自然流产；总流产率：92.8%）的女性及其112名全同胞和101名父母进行了组织相容性分型。共享先证者2个、1个和0个单倍型的全姐妹的分布偏离了预期的孟德尔分离比例（p<0.05）。共享先证者两个单倍型的姐妹流产率为59.1%，单倍型相同的姐妹流产率为25.0%，而单倍型完全不同的姐妹中6.3%的妊娠以流产告终。先证者的HLA单倍型中，HLA - A、B单倍型显著过量（p<0.02），此前在丹麦人中已显示这些单倍型呈现正连锁不平衡特征。对先证者及其同胞的流产率分析表明，特发性复发性流产综合征以及可能一些散发性流产的倾向是由HLA区域的基因决定的遗传状况。所呈现的数据可能与一种加性多基因遗传模式相符，在由HLA连锁的自然流产易感区域（SASR）控制下，在女性中具有排他性或主要的表型表达。
