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46,XY核型葡萄胎的遗传学研究(作者译)

[Genetic studies of hydatidiform mole with 46,XY karyotype (author's transl)].

作者信息

Ohama K, Okamoto E, Nomura K, Fujiwara A, Fukuda Y

出版信息

Nihon Sanka Fujinka Gakkai Zasshi. 1981 Oct;33(10):1664-8.

PMID:6458639
Abstract

Complete hydatidiform moles are androgenetic in origin. The majority of them show a 46,XX karyotype, while some are 46,XY. Chromosome analysis of 75 complete moles revealed three (4.0%) to be so. The XY moles, the patients and their husbands were studied for various polymorphic markers, including chromosomal Q-banding heteromorphism, HLA antigen, phosphoglucomutase-1 and esterase D, in order to determine the origin of XY moles. In all of the three XY moles studied, some of the polymorphic markers were not inherited from the patients, but they were exclusively paternal. Thus, these moles were androgenetic in origin. They also showed both homozygous and heterozygous Q-banding patterns in their homozygous chromosome pairs. Therefore, they were of dispermic origin. In conclusion, XY moles are of dispermic origin.

摘要

完全性葡萄胎起源于雄核发育。它们大多数表现为46,XX核型,而有些是46,XY。对75例完全性葡萄胎进行染色体分析发现其中3例(4.0%)是这种情况。对XY型葡萄胎、患者及其丈夫进行了各种多态性标记物的研究,包括染色体Q带异态性、HLA抗原、磷酸葡萄糖变位酶-1和酯酶D,以确定XY型葡萄胎的起源。在所研究的3例XY型葡萄胎中,一些多态性标记物并非遗传自患者,而是完全来自父方。因此,这些葡萄胎起源于雄核发育。它们在纯合染色体对中还表现出纯合和杂合的Q带模式。所以,它们是双精子起源。总之,XY型葡萄胎是双精子起源。

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