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山羊β-甘露糖苷贮积症的遗传

Inheritance of beta-mannosidosis in goats.

作者信息

Fisher R A, Rathke E J, Kelley J A, Dunstan R W, Cavanagh K, Jones M Z

出版信息

Anim Genet. 1986;17(2):183-90. doi: 10.1111/j.1365-2052.1986.tb00737.x.

Abstract

Plasma levels of beta-mannosidase activity were measured in the phenotypically normal members of a family of goats in which 12 cases of beta-mannosidosis have been reported. Normal or carrier genotypes were assigned on the basis of these results, and mating tables drawn up. Similar data were collected on a number of other small families unrelated to the one with beta-mannosidosis. The results indicate that the plasma beta-mannosidase level is a reasonably good indicator of carrier status and confirm that the disease beta-mannosidosis is inherited in a recessive manner and is not X-linked.

摘要

在一个已报告12例β-甘露糖苷贮积症的山羊家族中,对表型正常的成员测定了血浆β-甘露糖苷酶活性水平。根据这些结果确定正常或携带者基因型,并制定了交配表。在一些与β-甘露糖苷贮积症家族无关的其他小家族中收集了类似数据。结果表明,血浆β-甘露糖苷酶水平是携带者状态的一个相当好的指标,并证实β-甘露糖苷贮积症是以隐性方式遗传的,且不是X连锁的。

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