GM2神经节苷脂贮积症的命名

Nomenclature of GM2-gangliosidoses.

作者信息

Nørby S

出版信息

Clin Genet. 1980 May;17(5):320-2. doi: 10.1111/j.1399-0004.1980.tb00157.x.

DOI:10.1111/j.1399-0004.1980.tb00157.x

PMID:7192191

Abstract

As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2-gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses. The biochemical genetics of the lysosomal beta-hexosaminidase system in man are briefly reviewed, and recommendations are proposed for the use of eponyms and type designations based upon a locus-oriented framework.

摘要

作为最近提出的GM2神经节苷脂沉积症基因型和表型系统命名法的补充（奥布赖恩，1978b），建议采用关于这组鞘脂类疾病中人名命名法和类型命名法使用的指导原则。简要回顾了人类溶酶体β-己糖胺酶系统的生化遗传学，并基于以基因座为导向的框架对人名命名法和类型命名法的使用提出了建议。