基因芯片技术在早期自然流产遗传学诊断中的应用
Application of gene chip technology in genetic diagnosis of early spontaneous abortion
李妤 1李慧君 1苏比努尔·买买提 1古丽娜孜·米吉提 1张金花1
作者信息
- 1. 乌鲁木齐市妇幼保健院产前诊断中心,新疆乌鲁木齐 830000
- 折叠
摘要
目的 讨论基因芯片技术在检测早期自然流产组织染色体的临床应用价值.方法 应用基因芯片技术对236例早期自然流产物进行染色体检查,用软件ChAS 4.2进行解读分析,参考OMIM、DGV、DECIPHER、UCSC等人类染色体异常数据库,根据美国医学遗传学与基因组学学会(ACMG)发布的染色体拷贝数变异(CNV)诊断专业指南得出最终结果,同时对比既往文献分析CNV的致病性.结果 236例早期自然流产物均获得芯片结果,检出152例(64.41％)染色体异常:141例(92.76％)为染色体数目异常,其中116例染色体非整倍体异常(93例三体、20例单体、3例多条染色体非整倍体),19例三倍体,6例嵌合体;11例(7.24％)为染色体结构异常,其中包括1例染色体微缺失和1例微重复,1例部分缺失和1例部分重复,4例部分重复加微缺失,1例部分缺失加部分重复,以及2例杂合性缺失.5例染色体缺失加重复病例中有3例行夫妻染色体检查,均提示夫妻一方为染色体易位携带者.结论 导致流产的首要原因就是胚胎染色体的异常.而基因芯片技术的优势在于通量高和灵敏度高,能够有效地协助临床医生寻找流产的原因并提供有关遗传学的建议,同时也能对再次怀孕的风险做出评估,对流产患者具有重要的应用价值,可作为自然流产主要的遗传学检查手段.
Abstract
Objective Investigating the clinical utility of gene chip technology for the detection of early natural abor-tion-related chromosome abnormalities.Methods Genetic chip technology was used to detect 236 cases of early natural flow products,interpret and analyze them using ChAS 4.2 software.According to the American College of Medical Genetics(ACMG)guidelines for CNV diagnosis,the clinical diagnosis was given according to the human chromosome abnormality directory data-bases such as OMIM,DGV,DECIPHER,UCSC,and the pathogenicity of copy number variations was analyzed by comparing with previous literature.Results The chip results were obtained from 236 cases of early natural flow products,152 cases(64.41％)of chromosome abnormalities were detected,141 cases(92.76％)of chromosome number abnormalities,of which 116 cases of chromosome aneuploidy(93 cases of trisomy,20 cases of monomeric,3 cases of multi-chromosome aneuploidy),19 cases of triploid,6 cases of chimera.11 cases(7.24％)were chromosomal structural abnormalities,and these included 1 chromosome microdeletion and 1 microduplication,1 partial deletion and 1 partial duplication,4 partial duplication plus microdeletion,1 partial deletion plus partial duplication,and 2 heterozygous deletion.In 5 cases of chromosome deletion+duplication,3 of the couples underwent chromosome examination,indicating that one of the couples was a chromosome translocation carrier.Conclusion Chromosomal abnormality of embryo is the main factor causing abortion.Gene chip technology has the advantages of high throughput and high sensitivity,and provides scientific theoretical guidance for the etiology diagnosis,genetic counseling and risk assessment of reproduction of abortion patients.It has clinical application value,and can be used as the main detection technology for the genetic diagnosis of flow products.
关键词
基因芯片/自然流产/染色体/遗传学诊断Key words
gene chip/spontaneous abortion/chromosome/genetic diagnosis引用本文复制引用
基金项目
乌鲁木齐市卫生健康委科技计划项目(202102)
出版年
2024
NETL
NSTL
万方数据