混合型母源16号染色体单亲二体与胎儿生长受限  

Complex maternal uniparental disomy 16 and fetal growth restriction

作　　者：王晔[1] 纪媛君 周祎[1] Wang Ye;Ji Yuanjun;Zhou Yi(Department of Obstetrics&Gynecology,The First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院产科,广东广州510080

出　　处：《中国产前诊断杂志（电子版）》2020年第4期36-43,共8页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：国家自然科学基金青年项目(31801045);广东省自然科学基金博士科研启动项目(2018A030310244)。

摘　　要：目的探讨2例因“早发型胎儿生长受限”就诊的胎儿遗传学病因与表型之间的关联。方法收集2例胎儿的临床资料并进行羊水细胞的核型分析和染色体微阵列分析,后续抽取父母外周血确认纯合区域的来源。对其中1例病例胎盘的3处位点取样后进行荧光原位杂交分析,推测单亲二体的可能发生机制。结果2例胎儿羊水细胞的染色体核型结果均正常,微阵列分析结果提示存在16号染色体末端的纯合区域(regions of homozygosity,ROH),长度分别为6.97Mb(位于16p13.3)和16.42Mb(位于16q22.3q24.3)。经过父母和胎儿的snp位点进行分析,确定这2例胎儿为单亲同二体和单亲异二体的混合型母源16号染色体单亲二体[uniparental disomy 16,UPD(16)]。最后对其中1例胎儿胎盘3个部位取材样本的荧光原位杂交(fluorescent in situ hybridization,FISH)结果显示,胎盘绒毛细胞中16号染色体三体比例占95%以上,证实为限制性胎盘嵌合体。结论母源性16号染色体单亲二体和胎儿生长受限表型的直接关联仍需要深入研究,该表型可能是由于胎盘限制性嵌合三体所引起,我们的结果为理解16号染色体单亲二体对胎儿和胎盘的临床效应提供了新数据。Objective To identify the genetic cause for two Chinese fetuses with fetal growth restriction(FGR).Methods Chromosomal microarray analysis(CMA)was used to detect Region of homozygosity(ROH),while Fluorescence in situ hybridization(FISH)was used to identify chromosome abnormalities.Results In this study,we identified two intrauterine growth restricted fetuses carrying a maternal UPD 16 with segmental hetero-and isodisomy using the Affymetrix CytoScan HD SNP-array and the UPDtool.We also performed FISH to identity trisomy mosaicism of chromosome 16(over 95 percent).We then explored the relationship between clinical abnormalities and UPD 16.Conclusion Considering UPD mechanism of potential impact on the function of the placenta,the genetic composition of chromosome 16,we think more studies are needed to further investigate the relationship between FGR and UPD16.

关 键 词：胎儿生长受限 单亲二体 染色体微阵列分析 荧光原位杂交 

分 类 号：R714.55[医药卫生—妇产科学]