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排除促黄体生成素和促卵泡激素受体基因编码区突变作为卵巢过度刺激综合征病因的可能性。

Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome.

作者信息

Kerkelä Erja, Skottman Heli, Friden Barbro, Bjuresten Kerstin, Kere Juha, Hovatta Outi

机构信息

Department of Biosciences, Novum, Karolinska Institutet, Huddinge, Sweden.

出版信息

Fertil Steril. 2007 Mar;87(3):603-6. doi: 10.1016/j.fertnstert.2006.06.060. Epub 2006 Oct 30.

Abstract

OBJECTIVE

To sequence the coding regions of the luteinizing hormone receptor (LHR) and follicle-stimulating hormone receptor (FSHR) genes to find out if polymorphisms in them are responsible for the severe form of ovarian hyperstimulation syndrome (OHSS) in Swedish patients.

DESIGN

A mutation analysis of gonadotropin receptor genes from women undergoing gonadotropin treatment.

SETTING

The Fertility Unit of Karolinska University Hospital Huddinge, Stockholm, Sweden.

PATIENT(S): A set of 10 well-characterized patients with severe OHSS, and 10 control women who did not develop OHSS after FSH stimulation. An additional 11 patients and 41 control women were screened for a two-amino-acid insertion in the first exon of the LHR gene.

INTERVENTION(S): None.

MAIN OUTCOME MEASURE(S): Changes in the sequence of the receptor genes between patients and controls.

RESULT(S): No association was found between polymorphisms of the coding region of LHR or FSHR genes and the development of OHSS. Incidence of the two-amino-acid insertion in the first exon of the LHR gene was slightly higher in patients than in controls, but no statistically significant difference was seen.

CONCLUSION

LHR and FSHR coding polymorphisms are not a major cause of severe OHSS in Swedish patients.

摘要

目的

对促黄体生成素受体(LHR)和促卵泡激素受体(FSHR)基因的编码区进行测序,以确定这些基因中的多态性是否与瑞典患者严重卵巢过度刺激综合征(OHSS)的发生有关。

设计

对接受促性腺激素治疗的女性的促性腺激素受体基因进行突变分析。

地点

瑞典斯德哥尔摩胡丁厄卡罗琳斯卡大学医院生殖医学科。

患者

一组10例特征明确的严重OHSS患者,以及10例在促卵泡激素(FSH)刺激后未发生OHSS的对照女性。另外对11例患者和41例对照女性进行了LHR基因第一外显子中双氨基酸插入的筛查。

干预措施

无。

主要观察指标

患者与对照之间受体基因序列的变化。

结果

未发现LHR或FSHR基因编码区多态性与OHSS的发生之间存在关联。LHR基因第一外显子中双氨基酸插入的发生率在患者中略高于对照,但差异无统计学意义。

结论

LHR和FSHR编码多态性不是瑞典患者严重OHSS的主要原因。

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