通过限制性片段长度多态性（RFLPs）分析对葡萄胎进行遗传学研究。

Genetic study of hydatidiform moles by restriction fragment length polymorphisms (RFLPs) analysis.

作者信息

Cho S, Kim S J

机构信息

Department of Obstetrics & Gynecology, Inha University Medical College, Catholic University Medical College, Korea.

出版信息

J Korean Med Sci. 1993 Dec;8(6):446-52. doi: 10.3346/jkms.1993.8.6.446.

DOI:10.3346/jkms.1993.8.6.446

PMID:7910025

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3053878/

Abstract

Twenty three hydatidiform moles (HMs) were studied using the techniques of "RFLPs" employing a minisatellite deoxyribonucleic acid probe. Among the 23 HMs, 17 were homozygous types resulting from a duplicated haploid sperm, and two were heterozygous types resulting from fertilization two independent sperms (dispermy). It was revealed that the four histopathologically diagnosed complete HMs (CHMs) were partial HMs (PHMs) with one maternal and 2 paternal chromosome contribution (diandry) or two maternal and 1 paternal alleles (digyny). The locus specific minisatellite probes were useful in classifying CHM into heterozygous and homozygous types as well as in diagnosing PHM. One heterozygous (50%) and 5 homozygous (29.4%) CHMs, and one PHM (25%) progressed to persistent gestational trophoblastic disease (p > 0.5).

摘要

采用小卫星脱氧核糖核酸探针的“限制性片段长度多态性”（RFLPs）技术对23例葡萄胎（HM）进行了研究。在这23例HM中，17例为单倍体精子复制产生的纯合型，2例为两个独立精子受精（双精受精）产生的杂合型。结果显示，4例经组织病理学诊断为完全性葡萄胎（CHM）的病例为部分性葡萄胎（PHM），分别有一条母源染色体和两条父源染色体（双雄受精）或两条母源等位基因和一条父源等位基因（双雌受精）。位点特异性小卫星探针有助于将CHM分为杂合型和纯合型，以及诊断PHM。1例杂合型（50%）和5例纯合型（29.4%）CHM，以及1例PHM（25%）进展为持续性滋养细胞疾病（p>0.5）。