SNP-array技术在流产组织染色体检测方面的应用  

Application of SNP-array technology in chromosome detection of aborted tissue

作　　者：任伊佳 孙莹 韦晨曦 王晓倩 张暋 Ren Yijia;Sun Ying;Wei Chenxi;Wang Xiaoqian;Zhang Min(Zhengzhou KingMed Center for Clinical Laboratory,Zhengzhou 450000,China)

机构地区：[1]郑州金域临床检验中心有限公司,郑州450000

出　　处：《国际遗传学杂志》2023年第6期428-434,共7页International Journal of Genetics

摘　　要：目的应用SNP-array芯片技术对自然流产组织进行检测, 并评估在分析染色体整倍体异常方面的应用价值。方法收集孕早期流产组织761例, 进行SNP-array芯片技术检测。结果应用SNP-array技术在孕早期自然流产患者中总体染色体异常检出率为53.35%(406/761), 其中三倍体4.99%(38/761)、近三倍体1.05%(8/761)、全基因组单亲二倍体0.26%(2/761)、嵌合型全基因组单亲二倍体0.26%(2/761), 其余染色体异常主要为三体、单体、片段缺失及重复。结论 SNP-array技术不仅能检出非整倍体异常如三体、单体、微缺失微重复等, 还能有效检出三倍体、全基因组单亲二倍体。相对于CNV-seq检测, SNP-array技术能检测孕早期染色体整倍体异常导致的流产, 并且联合STR分析能区分以上异常的来源, 进一步鉴别是否为完全性葡萄胎、部分性葡萄胎或非葡萄胎水肿性流产, 减少漏诊, 对于分析自然流产的病因, 进行葡萄胎后续治疗、指导再次生育及遗传咨询有重要的意义。Objective Applying single nucleotide polymorphism array(SNP array)to detect spontaneous abortion tissues and evaluate the application value in the analysis of chromosome euploid abnormalities.Methods 761 cases of early pregnancy abortion tissue were collected for chromosome microarray SNP-array.Results The overall chromosomal abnormality detection rate of SNP-array in early pregnancy spontaneous abortion patients is 53.35%(406/761),including triploidy 4.99%(38/761),near triploidy 1.05%(8/761),genome-wide uniparental disomy 0.26%(2/761),and mosaic enome-wide uniparental disomy 0.26%(2/761).The other chromosomal abnormalities are mainly trisomy,monosomy,fragment deletion and duplication.Conclusions SNP-array can not only detects aneuploidy abnormalities such as trisomy,monosomy,microdeletions,and microduplications,but also effectively detects triploidy,genome-wide uniparental disomy.Compared with CNV-seq,SNP-array can detect miscarriage caused by chromosomal aneuploidy abnormalities in early pregnancy,and combined with STR analysis can distinguish the source of the above abnormalities.Further identification of complete hydatidiform mole,partial hydatidiform mole or diploid hydropic abortion and reduction of missed diagnosis are of great significance for analyzing the cause of spontaneous abortion,conducting follow-up treatment of hydatidiform mole,guiding reproduction and genetic consultation.

关 键 词：染色体微阵列分析 自然流产 整倍体异常 葡萄胎 

分 类 号：R714.21[医药卫生—妇产科学]