空卵泡综合征患者家系的LHCGR基因突变检测及系谱分析

doi:10.19739/j.cnki.issn1001-9510.2020.01.009

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Abstract Objective To explore the relationship between LHCGR gene mutation and empty follicular syndrome and to guide the diagnosis and treatment of related reproductive diseases. Methods An analysis was carried out on LHCGR gene mutation and pedigree of a infertile patient with empty follicular syndrome by gene sequencing. Results There was homozygous mutation in exon 11 of LHCGR gene in this patient: chr2:48915113A>G, c.1823T>C, p. Leu608Pro. The mutation resulted in the mutation of LHCGR protein from leucine (Leucine, Leu) to proline (Proline, Pro) at position 608. The family analysis of the patient and sequencing of the family members showed that the parents belonged to the heterozygous mutation, the proband brother (46, XY) was a homozygous mutation, and the proband sister (with a girl and a boy) belonged to a heterozygous mutation. Conclusion LHCGR gene mutation can lead to empty follicle syndrome, which in turn leads to the occurrence of related reproductive diseases.

Key words： empty follicle syndrome LHCGR gene mutation pedigree analysis

Received: 21 October 2019

PACS:

R711.6

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	Articles by authors
	WANG Liting
	WANG Chengxiang
	SUN Hongliang
	WANG Yanlin
	LI Qingchun

Cite this article:

WANG Liting,WANG Chengxiang,SUN Hongliang, et al. Detection of LHCGR gene mutation and pedigree analysis in the family with empty follicular syndrome[J]. 滨州医学院学报, 2020, 43(1): 34-37.

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http://manu58.magtech.com.cn/Jwk_bzyxy/EN/10.19739/j.cnki.issn1001-9510.2020.01.009 OR http://manu58.magtech.com.cn/Jwk_bzyxy/EN/Y2020/V43/I1/34

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