The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction

T Lightfoot; R Joshi; G Nuki; F F Snyder

doi:10.1007/BF02265300

The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction

Hum Genet. 1992 Mar;88(6):695-6. doi: 10.1007/BF02265300.

Authors

T Lightfoot¹, R Joshi, G Nuki, F F Snyder

Affiliation

¹ Department of Paediatrics, University of Calgary, Alberta, Canada.

PMID: 1551676
DOI: 10.1007/BF02265300

Abstract

The change in DNA responsible for partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in three brothers has been determined by polymerase chain amplification and sequencing. An A-to-G substitution at base 155 in exon 3 predicts a change in aspartic acid 52 to glycine. Allele-specific polymerase chain amplification verified the presence of the mutation in genomic DNA and provides a means of direct diagnostic assay.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Base Sequence
Humans
Hypoxanthine Phosphoribosyltransferase / deficiency
Hypoxanthine Phosphoribosyltransferase / genetics*
Lymphocytes / cytology
Male
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction

Substances

Hypoxanthine Phosphoribosyltransferase

Associated data

GENBANK/S78409
GENBANK/S78411
GENBANK/S78413
GENBANK/S78753
GENBANK/S83243
GENBANK/S89848
GENBANK/S89851
GENBANK/S89853
GENBANK/S89910
GENBANK/S89911