产前诊断X染色体单亲二倍体Klinefelter综合征胎儿3例  

Prenatal diagnosis of uniparental disomy of the entire X chromosome in 3 fetuses with Klinefelter syndrome

作　　者：李妍 刘真真[1] 单珊 侯菲[1] 金华[1] Li Yan;Liu Zhenzhen;Shan Shan;Hou Fei;Jin Hua(Department of Prenatal Diagnosis,Jinan Maternal and Child Health Hospital,Jinan 250001,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250000

出　　处：《国际遗传学杂志》2024年第2期151-156,共6页International Journal of Genetics

摘　　要：目的探讨荧光定量PCR(quantitative fluorescence PCR,QF-PCR)在单亲二倍体产前诊断中的应用。方法选取2022年6-8月于济南市妇幼保健院行产前诊断的3例孕妇为研究对象,采集绒毛或羊水样本行QF-PCR检测,对QF-PCR筛选到的X染色体单亲二倍体样本行染色体微阵列分析(chromosomal microarray analysis,CMA)进行验证。结果QF-PCR结果显示,3例绒毛/羊水样本在AMXY位点为双峰峰型,峰面积比约为2∶1;在TAF9b位点为双峰峰型,峰面积比约为1∶2;在SRY和DYS448位点为单峰峰型;在X染色体短串联重复序列位点处均为单峰峰型,提示为XXY且X染色体为单亲同二体。CMA结果证实3例样本均为XXY且X染色体为单亲同二体。结论QF-PCR除可应用于常见染色体非整倍体数目异常的检测外,也可有效提示目标染色体的单亲二倍体。Objective To investigate the application of quantitative fluorescence PCR(QF-PCR)in the prenatal diagnosis of uniparental disomy(UPD).Methods Chorionic villus sampling/amniocentesis and QF-PCR were carried out for 3 pregnant women who had presented at Jinan Maternal and Child Health Hospital from June to August in 2022.Chromosomal microarray analysis(CMA)was performed to verify the X-chromosome UPD samples screened by QF-PCR.Results QF-PCR results of all samples showed that the markers AMXY and TAF9b illustrated a trisomic biallelic pattern;the markers SRY,DYS448 and all the short tandem repeat(STR)markers located on X chromosome exhibited one peak.Above the results indicated XXY and X-chromosome UPD,which was confirmed by CMA.Conclusion QF-PCR can not only be applied to the detection of common chromosome aneuploidy,but also can effectively indicate UPD of the target chromosome.

关 键 词：荧光定量PCR 染色体微阵列分析 单亲二倍体 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]