Abstract:
Hydatidiform moles are classified into complete hydatidiform moles (CHMs), which are androgenetic and diploid, and partial hydatidiform moles (PHM), which are triploid with two paternal chromosomes and one maternal chromosome. The incidence of gestational trophoblastic neoplasia differs substantially between CHM and PHM. However, they are occasionally difficult to diagnose. In this review, auxiliary and experimental methods based on cytogenetic features and advanced molecular detection techniques applied to the diagnosis and analysis of hydatidiform moles are summarized, including basic principles, characteristics, and clinical implications. Short tandem repeat polymorphism analysis is considered the gold standard for the genetic diagnosis of hydatidiform moles. In clinical settings, immunohistochemical analyses of p57KIP2 , an imprinted gene product, are widely used to differentiate CHMs from other conceptuses, including PHMs. Recently, new molecular genetic techniques, such as single nucleotide polymorphism arrays, have been applied to research on hydatidiform moles. In addition to insights from classical methods, such as chromosome analysis, recently developed approaches have yielded novel findings related to the mechanism underlying the development of androgenetic CHMs.
摘要:
葡萄胎分为完全葡萄胎(CHMs),它们是雄激素和二倍体,和部分葡萄胎(PHM),它是三倍体,有两条父系染色体和一条母系染色体。CHM和PHM之间妊娠滋养细胞瘤形成的发生率有很大差异。然而,有时很难诊断。在这次审查中,总结了基于细胞遗传学特征的辅助和实验方法以及先进的分子检测技术在葡萄胎诊断和分析中的应用,包括基本原则,特点,和临床意义。短串联重复多态性分析被认为是葡萄胎遗传诊断的金标准。在临床环境中,p57KIP2的免疫组织化学分析,印记基因产物,被广泛用于区分CHM和其他概念,包括PHMs。最近,新的分子遗传技术,例如单核苷酸多态性阵列,已应用于葡萄胎的研究。除了经典方法的见解,比如染色体分析,