基于一名核型为46,XX,del(4)(q33)的女孩中天门冬氨酰葡糖胺酶基因（AGA）活性降低，将该基因定位于4q33----q35。

Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.

作者信息

Engelen J, Hamers A, Schrander-Stumpel C, Mulder H, Poorthuis B

机构信息

Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.

出版信息

Cytogenet Cell Genet. 1992;60(3-4):208-9. doi: 10.1159/000133338.

DOI:10.1159/000133338

PMID:1505217

Abstract

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.

摘要

天冬氨酰葡糖胺尿症（AGU）是一种隐性常染色体遗传性溶酶体贮积症，病因是缺乏天冬氨酰葡糖胺酶（AGA）。这种人类酶（AGA）的结构基因已被定位于4q21----qter区域。我们测定了一名核型为46,XX,del(4)(q33)的女孩培养成纤维细胞中的AGA活性。结果表明该女孩是AGA的半合子，从而将人类AGA定位于4q33----qter区域。