Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.
Journal Article (Journal Article)
Serum and/or plasma samples from 360 Whites and 126 Blacks were assayed for activity of the lysosomal hydrolase alpha-N-acetyl-D-glucosaminidase (NAG). The samples from the Blacks had an increased mean (0.50 nm/ml/min) and standard deviation (0.30 nm/ml/min) compared to those from the Whites (0.29 nm/ml/min and 0.10 nm/ml/min, respectively). After loge transformation and admixture analysis, it was possible to demonstrate the presence of 3 distributions of NAG activity in Blacks and at least 2 in Whites. Segregation analysis of the NAG activity of 29 White half-sib twin families indicated that a genetic model for the inheritance of NAG activity provided a better fit (P less than 0.01) with the data than the "environmental" model. Thus, the study suggests the presence of a genetic polymorphism for NAG activity in Black and White populations. The presence of alleles for high and low NAG activity in the normal population could lead to incorrect interpretation of serum carrier tests for Sanfilippo syndrome, type B.
Full Text
Duke Authors
Cited Authors
- Vance, JM; Pericak-Vance, MA; Elston, RC; Conneally, PM; Namboodiri, KK; Wappner, RS; Yu, PL
Published Date
- 1980
Published In
Volume / Issue
- 7 / 2
Start / End Page
- 131 - 140
PubMed ID
- 6781343
International Standard Serial Number (ISSN)
- 0148-7299
Digital Object Identifier (DOI)
- 10.1002/ajmg.1320070207
Language
- eng
Conference Location
- United States