卵巢功能障碍女性中的脆性X前突变和（TA）n雌激素受体多态性

Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.

作者信息

Syrrou M, Georgiou I, Patsalis P C, Bouba I, Adonakis G, Pagoulatos G N

机构信息

Laboratory of General Biology, Medical School, University of Ioannina, Greece.

出版信息

Am J Med Genet. 1999 May 28;84(3):306-8.

PMID:10331614

Abstract

We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). FRAXA premutation was found in one woman with familial POF. A significant association of familial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed. Our preliminary data suggest a potential role of the estrogen receptor in POF, and it may influence the variable age of menopause of the FRAXA premutation carriers.

摘要

我们研究了五组卵巢功能障碍女性，检测她们FMR1基因中的CGG重复序列扩展情况以及雌激素受体基因中的(TA)n多态性：a）作为体外受精一部分的卵巢刺激低反应者（n = 13）；b）家族性早发性卵巢功能不全（POF）女性（n = 7）；c）散发性POF病例（n = 16）；d）患有POF的FRAXA前突变携带者（n = 7）；以及e）未患POF的FRAXA前突变携带者（n = 9）。在一名家族性POF女性中发现了FRAXA前突变。与对照组相比，观察到家族性POF和患有POF的FRAXA前突变携带者中(TA)n多态性拷贝数较低之间存在显著关联。我们的初步数据表明雌激素受体在POF中可能发挥作用，并且它可能影响FRAXA前突变携带者绝经年龄的差异。