全基因组测序技术鉴定隐匿性染色体平衡易位携带者1例  

Identification of a cryptic chromosome balanced translocation carrier by whole-genome sequencing

作　　者：朱秋敏 吴轲 Zhu Qiumin;Wu Ke(Obstetrics Department,Quzhou Maternity and Child Health Care Hospital,Quzhou 324000,China;Laboratory of Prenatal Diganosis Center,Quzhou Maternity and Child Health Care Hospital,Quzhou 324000,China)

机构地区：[1]衢州市妇幼保健院产科,衢州324000 [2]衢州市妇幼保健院产前诊断实验室,衢州324000

出　　处：《国际遗传学杂志》2024年第4期284-290,共7页International Journal of Genetics

基　　金：衢州市级指导性科技攻关项目(2023ZD084)。

摘　　要：目的利用全基因组测序技术(whole-genome sequencing,WGS)鉴定1例隐匿性染色体平衡易位携带者,指导其优生优育。方法应用全基因组测序技术对常规染色体核型分析正常的疑似染色体平衡易位的携带者进行检测,通过基因组数据分析,确定染色体断裂位点。后续用Sanger测序技术对易位携带者进行染色体断裂位点验证。结果发现先证者母亲为隐匿性平衡易位携带者,全基因组测序结果为seq[GRCh37]t(10;2)(p15.3;q37.3)(chr10:2661197;chr2:237930686),涉及5.3 Mb大小的2q37.3末端和2.7 Mb大小的10p15.3末端的相互易位;父亲未见异常。结论WGS技术能够精准定位染色体断裂位点,克服了染色体核型分辨不足的劣势;WGS无需细胞培养,有助于染色体易位的快速检测,为携带者的遗传咨询、产前诊断及辅助生殖提供精准信息。ObjectiveTo identify a cryptic balanced translocation carrier by whole-genome sequencing(WGS)and guide her prenatal and postnatal care.MethodsWGS was used to detect the suspected balanced translocation carrier with normal conventional karyotype analysis,and the chromosomal breakpoints were determined by genomic data analysis.Subsequently,the chromosomal breakpoins of the carrier was verified by Sanger sequencing.Resultsthe proband’s mother was a cryptic balanced translocation carrier.The result of WGS was seq[GRCh37]t(10;2)(p15.3;q37.3)(chr10:2661197;chr2:237930686).It was involved in the chromosomal balanced translocation between 2q37.3(5.3Mb)and 10p15.3(2.7Mb).The proband’s father was normal.ConclusionWGS can accurately identify the chromosomal breakpoints and overcome the disadvantage of insufficient karyotype discrimination.The utilization of WGS obviates the need for cell culture,thereby facilitating expedited detection of chromosomal translocations and furnishing precise genetic information for the purposes of genetic counseling,prenatal diagnosis,and assisted reproduction in carriers.

关 键 词：全基因组测序 染色体平衡易位 核型分析 

分 类 号：R596.1[医药卫生—内科学]