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

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→q