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意大利反复自然流产夫妇中的人类白细胞抗原(HLA)和补体因子等位基因共享情况。

HLA and complement factors alleles sharing in Italian couples with recurrent spontaneous abortions.

作者信息

Pennesi G, Brioli G, Lulli P, Mariani B, Morellini M, Nicotra M, Trabace S

机构信息

Dipartimento di Medicina Sperimentale e Patologia, Universitá degli Studi di Roma La Sapienza, Italy.

出版信息

Hum Immunol. 1998 Jun;59(6):382-6. doi: 10.1016/s0198-8859(98)00028-7.

Abstract

Recurrent Spontaneous Abortion (RSA) is postulated to be due to several factors including immunogenetic mechanisms. Many studies have been conducted on the effect of the MHC region in the reproductive phenomena suggesting an immunological or genetic involvement in RSA. We studied couples with 3 or more abortions among a larger group of couples in which female partners were anti-cardiolipin antibodies negative, resulting in a population of 43 couples typed for HLA-A, B, C, DR, DQ. In 16 of these 43 couples, complement factors C4A, C4B, and Bf were typed. The data shows a statistically significant increase of C4BQ0 in RSA patients (N = 32) compared with the control population (N = 44) (pc = .00147) and also a statistically significant increase of C4BQ0 sharing in aborting couples (43.75%) against the expected sharing rate in the control population (1.86%) (p < .001). Frequency increase of C4BQ0 allele in aborting population leads to the hypothesis that an imbalance of complement factors expression and activity can have detrimental effects on implantation and embryo survival. Additionally, the significant sharing rate of C4BQ0 in couples with RSA could indicate the existence of a gene in linked to this allele predisposing to RSA and acting in a recessive manner if present in double copies in the fetus.

摘要

复发性自然流产(RSA)被推测是由多种因素引起的,包括免疫遗传机制。关于主要组织相容性复合体(MHC)区域在生殖现象中的作用,已经进行了许多研究,提示其在RSA中存在免疫或遗传方面的影响。我们在一大群夫妇中研究了有3次或更多次流产经历的夫妇,其中女性伴侣抗心磷脂抗体呈阴性,最终对43对夫妇进行了HLA - A、B、C、DR、DQ分型。在这43对夫妇中的16对中,对补体因子C4A、C4B和Bf进行了分型。数据显示,与对照组人群(N = 44)相比,RSA患者(N = 32)中C4BQ0有统计学意义的增加(pc = 0.00147),并且与对照组人群的预期共享率(1.86%)相比,流产夫妇中C4BQ0共享也有统计学意义的增加(43.75%)(p < 0.001)。流产人群中C4BQ0等位基因频率的增加导致这样一种假设,即补体因子表达和活性的失衡可能对植入和胚胎存活产生有害影响。此外,RSA夫妇中C4BQ0的显著共享率可能表明存在一个与该等位基因连锁的基因,该基因易导致RSA,如果在胎儿中以双拷贝形式存在,则以隐性方式起作用。

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