人N-乙酰半乳糖胺-4-硫酸酯酶基因（ARSB）的染色体定位
Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.
作者信息
Litjens T, Baker E G, Beckmann K R, Morris C P, Hopwood J J, Callen D F
机构信息
Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
出版信息
Hum Genet. 1989 Apr;82(1):67-8. doi: 10.1007/BF00288275.
A deficiency of N-acetylgalactosamine-4-sulphatase (G4S, gene symbol ARSB), results in the accumulation of undegraded substrate and the lysosomal storage disorder, Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). In situ hybridization using an 3H-labelled human G4S genomic DNA fragment to human metaphase chromosomes localized ARSB to chromosome 5q13-5q14. This location is consistent with, an refines, previous chromosomal assignments based on the expression of human G4S in somatic cell hybrids.
N-乙酰半乳糖胺-4-硫酸酯酶（G4S，基因符号ARSB）的缺乏会导致未降解底物的积累以及溶酶体贮积症——马罗-拉米综合征（黏多糖贮积症VI型）。使用3H标记的人类G4S基因组DNA片段对人类中期染色体进行原位杂交，将ARSB定位到5号染色体的q13 - q14区域。该定位与之前基于人类G4S在体细胞杂种中的表达所进行的染色体定位一致，且更为精确。
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