Mutations in the Hypoxanthine Guanine Phosphoribosyltransferase Gene (HPRT1) in Asian HPRT Deficient Families

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS(2006)

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Abstract
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified 34 mutations in 28 Japanese, 7 Korean, and 1 Indian families with the patients manifesting different clinical phenotypes, including two rare cases in female subjects, by the analysis of all nine exons of HPRT from the genomic DNA and reverse transcribed mRNA using PCR technique coupled with direct sequencing.
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Key words
HPRT,deficiency,mutations,Lesch-Nyhan syndrome,Kelley-Seegmillar syndrome
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