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乙二醛酶1:一种可能的“无效”等位基因。

Glyoxalase 1: a possible 'null' allele.

作者信息

Rubinstein P, Suciu-Foca N

出版信息

Hum Hered. 1979;29(4):217-20. doi: 10.1159/000153047.

Abstract

A three-generation family, ascertained through the presence of two diabetic sibs, provides segregation data suggestive of the existence of a null allele at the glyoxalase (GLO) locus. This conclusion is supported by the GLO 1 phenotype in two children from a GLO 2 father. These two children inherited the same paternal HLA allele, while two other sibs received GLO 2 with the other paternal HLA haplotype. The rest of the pedigree is in agreement with this suggestion, while the segregation of all other informative markers does not suggest nonpaternity.

摘要

一个通过两个患糖尿病的兄弟姐妹确诊的三代家庭,提供了分离数据,表明乙二醛酶(GLO)位点存在无效等位基因。来自GLO 2型父亲的两个孩子的GLO 1表型支持了这一结论。这两个孩子继承了相同的父本HLA等位基因,而另外两个兄弟姐妹则从父本的另一个HLA单倍型中获得了GLO 2。家系的其他部分也与这一推测相符,而所有其他信息性标记的分离并未表明存在非父系情况。

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