Evidence of genetic variation for α-N-acetyl-D-glucosaminidase in Black and White populations: A new polymorphism

J. M. Vance, M. A. Pericak-Vance, R. C. Elston, P. M. Conneally, K. K. Namboodiri, R. S. Wappner, P. L. Yu

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Serum and/or plasma samples from 360 Whites and 126 Blacks were assayed for activity of the lysosomal hydrolase α-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 (0.29nm/ml/min and 0.10 nm/ml/min, respectively). After log(e) 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<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.

Original languageEnglish (US)
Pages (from-to)131-140
Number of pages10
JournalAmerican journal of medical genetics
Volume7
Issue number2
DOIs
StatePublished - Dec 1 1980
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Evidence of genetic variation for α-N-acetyl-D-glucosaminidase in Black and White populations: A new polymorphism'. Together they form a unique fingerprint.

  • Cite this