SNP-array技术在流产组织遗传学分析中的价值

Value of SNP-Array technique in genetic analysis of abortion tissue

目的研究单核苷酸多态性微阵列(single nucleotide polymorphism microarrays,SNP-array)技术在流产组织遗传学分析中的价值。方法选择2020年7月—2022年2月于周口市妇幼保健院确诊为稽留流产的50例患者作为研究对象,按患者纳入顺序进行编号。使用SNP-array技术(SNP-array组)和荧光原位杂交技术(对照组)分别对每位患者进行检测,比较患者染色体异常检出情况。结果SNP-array组中染色体异常34例、整倍体异常22例、非整倍体异常12例,对照组中依次分别为24例、15例、9例。SNP-array组的染色体异常检出率(68.00%)高于对照组(48.00%),差异有统计学意义(χ^(2)=4.105,P=0.043)。SNP-array组染色体微重复微缺失9例,33号为单一位点重复,7号为单一位点缺失,2号为两位点重复,41号为两位点缺失,其余5个均为2个位点及以上微重复微缺失。结论SNP-array技术在流产组织遗传学分析中对异常染色体检出率较高,具有较好的临床应用价值。

Objective To investigate the value of single nucleotide polymorphism micro arrays(SNP-arrays)in the genetic analysis of abortion tissues.Method A total of 50patients diagnosed with missed miscarriage in Zhoukou Maternal and Child Health Hospital from July 2020 to February 2022 were selected as study subjects,and numbered in the order of patient inclusion.Each patient was detected separately using SNP-array technology(SNParray group)and fluorescence in situ hybridization technique(control group)to compare the detection of chromosomal abnormalities.Result There were 34 cases of chromosomal abnormalities,22 cases of euploidy abnormalities and 12 cases of aneuploidy abnormalities in the SNP-array group,and 24 cases,15 cases and 9 cases in the control group,respectively.The detection rate of chromosomal abnormalities in the SNP-array group(68.00%)was higher than that in the control group(48.00%),and the difference was statistically significant(χ^(2)=4.105,P=0.043).There were 9 cases of SNP-array microduplicate micro deletions,including singlepoint duplication on No.33,single-point deletion on No.7,two-point repeat on No.2,two-point deletion on No.41,and the remaining 5 microduplicate microdeletions with 2 sites or more.Conclusion SNP-array technology has a high detection rate of abnormal chromosomes in the genetic analysis of abortion tissue,and has good clinical application value.