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.

引用

页码：208 / 209

页数：2

共 9 条

[1]

AULA P, 1984, AM J HUM GENET, V36, P1215

[2] DETECTION OF HETEROZYGOTES FOR ASPARTYLGLUCOSAMINURIA (AGU) IN CULTURED FIBROBLASTS [J].

AULA, P ;

AUTIO, S ;

RAIVIO, K ;

NANTO, V .

HUMANGENETIK, 1974, 25 (04) :307-314

[3]

AULA P, 1973, CLIN GENET, V4, P297

[4]

AULA P, 1982, GENETIC ERRORS GLYCO, P123

[5]

GRON K, 1990, HUM GENET, V85, P233

[6] INTERSTITIAL TANDEM DIRECT DUPLICATION OF THE LONG ARM OF CHROMOSOME 4(Q23-Q27) AND POSSIBLE ASSIGNMENT OF THE STRUCTURAL GENE ENCODING HUMAN ASPARTYLGLUCOSAMINIDASE TO THIS SEGMENT [J].

HALAL, F ;

VEKEMANS, M ;

CHITAYAT, D .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 39 (04) :418-421

[7] COMPARATIVE ASPECTS OF GLYCOPROTEIN STRUCTURE [J].

KORNFELD, R ;

KORNFELD, S .

ANNUAL REVIEW OF BIOCHEMISTRY, 1976, 45 :217-237

[8] ENZYMATIC CLEAVAGE OF GLYCOPEPTIDES [J].

MAKINO, M ;

KOJIMA, T ;

YAMASHINA, I .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1966, 24 (06) :961-+

[9] STUDIES ON ENZYMES ACTING ON GLYCOPEPTIDES [J].

MAKINO, M ;

KOJIMA, T ;

OHGUSHI, T ;

YAMASHINA, I .

JOURNAL OF BIOCHEMISTRY, 1968, 63 (02) :186-+

← 1 →