胎盘和生殖细胞碱性磷酸酶限制性片段长度多态性及与自然流产相关的单倍型。

Placental and germ cell alkaline phosphatase RFLPs and haplotypes associated with spontaneous abortion.

作者信息

Wennberg C, Kivelä A, Holmgren P A

机构信息

Department of Medical Genetics, Umeå University, Sweden, Finland.

出版信息

Hum Hered. 1995 Sep-Oct;45(5):272-7. doi: 10.1159/000154313.

DOI:10.1159/000154313

PMID:7590759

Abstract

Placental alkaline phosphatase (PLAP) and germ cell alkaline phosphatase (GCAP) are controlled by closely linked genes on chromosome 2q34-q37. In previous investigations, associations have been found between PLAP types and spontaneous abortion. In this study, PLAP and GCAP RFLPs and haplotypes were found to show highly significant associations with spontaneous abortions in the Finnish and Swedish populations. However, different associations were found in the Finnish and Swedish populations. The Finnish abortions were associated with the GCAP allele PstI(b) 2 and the Swedish abortions with the PLAP allele PstI(a) 2. A possible mechanism behind the associations may therefore be linkage disequilibria with deleterious alleles within or close to the alkaline phosphatase gene complex.

摘要

胎盘碱性磷酸酶（PLAP）和生殖细胞碱性磷酸酶（GCAP）由位于2号染色体q34 - q37上紧密连锁的基因控制。在先前的研究中，已发现PLAP类型与自然流产之间存在关联。在本研究中，发现PLAP和GCAP的限制性片段长度多态性（RFLPs）及单倍型在芬兰和瑞典人群中与自然流产呈现高度显著的关联。然而，在芬兰和瑞典人群中发现了不同的关联。芬兰的流产与GCAP等位基因PstI(b) 2相关，而瑞典的流产与PLAP等位基因PstI(a) 2相关。因此，这些关联背后的一个可能机制可能是与碱性磷酸酶基因复合体内部或附近的有害等位基因存在连锁不平衡。