Schweikert Andreas, Rau Thomas, Berkholz Alexander, Allera Axel, Daufeldt Sabine, Wildt Ludwig
Division of Gynecological Endocrinology & Reproductive Medicine, Department of Obstetrics and Gynecology, University of Erlangen-Nürnberg, Universitätsstrasse 21-23, 91054 Erlangen, Germany.
Eur J Obstet Gynecol Reprod Biol. 2004 Mar 15;113(1):67-72. doi: 10.1016/j.ejogrb.2003.04.002.
The current study sought for polymorphisms within the progesterone receptor (PR) gene. Allele and genotype frequencies of patients with repeated abortions were compared to a control group.
All exons of the PR of 42 women with repeated abortions and 40 controls were screened for single nucleotide polymorphisms (SNP). Determination of the DNA-sequences was performed.
Three SNPs were detected (exon 1: G1031C Ser344Thr; exon 4: G1978T Leu660Val, exon 5: C2310T His770His). These SNPs are linked. The more frequent wildtype (*1) allele and the rarer (*2) allele were found in the control group and in the study group at different frequencies (control group: *1/*1: 78%, *1/*2: 22%, *2/*2: 0%; patient group: *1/*1: 50%, *1/*2: 43%, *2/*2: 7%). The genotypes distributions differed significantly from each other (P=0.019, chi2=7.879).
The data suggest that the rarer PR allele may be associated with an increased likelihood of repeated miscarriages contributing to its multi-factorial causes.
本研究旨在寻找孕激素受体（PR）基因内的多态性。将反复流产患者的等位基因和基因型频率与对照组进行比较。
对42例反复流产女性和40例对照者的PR所有外显子进行单核苷酸多态性（SNP）筛查，并进行DNA序列测定。
检测到3个SNP（外显子1：G1031C，Ser344Thr；外显子4：G1978T，Leu660Val；外显子5：C2310T，His770His）。这些SNP相互连锁。在对照组和研究组中发现频率不同的较常见野生型（*1）等位基因和较罕见（*2）等位基因（对照组：*1/*1：78%，*1/*2：22%，*2/*2：0%；患者组：*1/*1：50%，*1/*2：43%，*2/*2：7%）。基因型分布彼此差异显著（P = 0.019，χ2 = 7.879）。
数据表明，较罕见的PR等位基因可能与反复流产可能性增加有关，这是导致反复流产多因素原因之一。
