乙二醛酶I基因座上“沉默等位基因”GLO0的证据。
Evidence for a 'silent allele' GLO0 at the glyoxalase I locus.
作者信息
Rittner C, Weber W
出版信息
Hum Genet. 1978 Jun 27;42(3):315-8. doi: 10.1007/BF00291312.
PMID:669712
Abstract
In a three-generation family, the segregation of an apparent silent allele at the GLO I locus in association with the rare HLA haplotype 'AW30-CW4-BW35' was observed in four members. In two cases the assumption of homozygosity at the GLO locus would lead to mother-child exclusions. Phenotypically, the GLO activity in the GLO0 carriers is clearly diminished.
摘要
在一个三代家庭中，在四名成员中观察到与罕见的 HLA 单倍型“AW30 - CW4 - BW35”相关的 GLO I 位点上一个明显的沉默等位基因的分离。在两例中，假设 GLO 位点纯合会导致母子间的排除。从表型上看，GLO0 携带者的 GLO 活性明显降低。
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