1例卵巢功能低下合并平衡易位患者的遗传学分析
Genetic analysis of a patient with premature ovarian insufficiency combined with balanced chromosomal translocations
傅文婷 1李铭臻 1钟文谣 1王柏贤1
作者信息
- 1. 广东省生殖科学研究所(广东省生殖医院)/国家卫生健康委员会男性生殖与遗传重点实验室,广东广州 510600
- 折叠
摘要
目的 对1名卵巢功能低下患者进行遗传学分析,探讨低深度全基因组测序在鉴定染色体结构异常方面的应用价值.方法 应用染色体常规G显带、低深度全基因组测序染色体结构畸变检测(LCWGS-CAT)对外周血染色体核型进行分析鉴定.结果 患者外周血核型结果提示为46,X,t(X;9)(q22;q13);全基因组测序结果显示患者2号染色体在201397512～201557259之间的序列发生了重复,重复区域包含卵巢功能低下(POI)的重要致病基因SGO2.结论 染色体平衡易位携带者可能会存在位于重排断裂点区域之外的微缺失或微重复,准确判断其致病性非常重要,需经全基因组测序等技术进行精准分析.
Abstract
Objective To analyze the genetic etiology of a patient with primary ovarian insufficiency,and to explore the application value of low coverage whole genome sequencing in the exploration of chromosomal structural abnormalities.Methods The chromosome karyotype of peripheral blood was analyzed and identified by conventional G-banding and low coverage whole genome sequencing-chromosomal aberrations test.Results The result of chromosome karyotype analysis was shown as 46,X,t(X;9)(q22;q 13).The results of whole genome sequencing showed repeated sequence of chromosome 2,which were located between 201397512-201557259,and the duplicated regions contained a pathogenic gene of primary ovarian in-sufficiency,named SGO2.Conclusion Carriers of balanced chromosomal translocations may have microdeletions or microdu-plications outside the rearrangement breakpoints,and it is very important to accurately determine their pathogenicity,which needs to be accurately analyzed by whole genome sequencing and other technologies.
关键词
卵巢功能低下/染色体结构异常/SGO2基因/全基因组测序Key words
primary ovarian insufficiency(POI)/structural chromosal abnormality/SGO2 gene/whole genome se-quencing引用本文复制引用
出版年
2024
NETL
NSTL
万方数据