ASSIGNMENT OF THE ASPARTYLGLUCOSAMINIDASE GENE (AGA) TO 4Q33-]Q35 BASED ON DECREASED ACTIVITY IN A GIRL WITH A 46,XX,DEL(4)(Q33) KARYOTYPE

被引：7
|
作者：
ENGELEN, J
HAMERS, A
SCHRANDERSTUMPEL, C
MULDER, H
POORTHUIS, B
机构：
[1] JANS GASTHUIS,DEPT PEDIAT,WEERT,NETHERLANDS
[2] LEIDEN UNIV,DEPT PEDIAT,2300 RA LEIDEN,NETHERLANDS
来源：
CYTOGENETICS AND CELL GENETICS | 1992年 / 60卷 / 3-4期
关键词：
D O I：
10.1159/000133338
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21-->qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33-->qter.
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页码：208 / 209
页数：2
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