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

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-spe...

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Veröffentlicht in:	Human genetics 1992-03, Vol.88 (6), p.695-696
Hauptverfasser:	LIGHTFOOT, T, RAHUL JOSHI, NUKI, G, SNYDER, F. F
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence Biological and medical sciences Humans Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Lymphocytes - cytology Male Medical sciences Metabolic diseases Molecular Sequence Data Mutation Other metabolic disorders Polymerase Chain Reaction Purines and pyrimidines (gout, hyperuricemia...)
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container_end_page	696
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container_title	Human genetics
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creator	LIGHTFOOT, T RAHUL JOSHI NUKI, G SNYDER, F. F
description	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.
doi_str_mv	10.1007/BF02265300
format	Article
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source	MEDLINE; SpringerLink Journals
subjects	Adolescent Adult Base Sequence Biological and medical sciences Humans Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Lymphocytes - cytology Male Medical sciences Metabolic diseases Molecular Sequence Data Mutation Other metabolic disorders Polymerase Chain Reaction Purines and pyrimidines (gout, hyperuricemia...)
title	The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction
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