Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype. |
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| Authors: | J Engelen A Hamers C Schrander-Stumpel H Mulder B Poorthuis |
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| Affiliation: | Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands. |
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| 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. |
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