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Hum Genet. 1992 Mar;88(6):695-6.

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

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


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.

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