Mithal Y, Lane A B, Jenkins T
Am J Hum Genet. 1980 Jan;32(1):42-6.
An individual with complete absence of red blood cell glutamic-pyruvate transaminase (GPT) activity has been discovered in a South African family of Lebanese origin. The subject, who also shows a low level of serum GPT, appears to be perfectly healthy. His children, all obligatory heterozygotes for the GPT0 allele, have lower than average levels of the red cell enzyme. An apparent instance of anomalous segregation of red cell GPT resulting from the inheritance of the GPT0 allele was recorded in one of the proband's grandchildren.
在一个祖籍黎巴嫩的南非家庭中，发现了一名完全缺乏红细胞谷丙转氨酶（GPT）活性的个体。该个体血清GPT水平也较低，但看起来完全健康。他的孩子都是GPT0等位基因的 obligatory 杂合子，其红细胞酶水平低于平均水平。在该先证者的一个孙辈中，记录到了一个因GPT0等位基因遗传导致红细胞GPT异常分离的明显实例。
