Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families

Nucleosides, Nucleotides and Nucleic Acids

Volumn 23, Issue 8-9, 2004, Pages 1169-1172

  Yamada, Y ^a   Yamada, K ^a   Sonta, S ^a   Wakamatsu, N ^a   Ogasawara, N ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

Deficiency; HPRT; Kelley Seegmillar syndrome; Lesch Nyhan syndrome; Mutations

Indexed keywords

GENOMIC DNA; MESSENGER RNA; RNA DIRECTED DNA POLYMERASE;

ALLELE; AMNIOTIC FLUID CELL; ASIAN; ATAXIA; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; CONFERENCE PAPER; DELETION MUTANT; DISEASE ASSOCIATION; DNA SEQUENCE; EXON; FAMILY; FEMALE; FETUS; GENE; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GOUT; HPRT1 GENE; HUMAN; HUMAN CELL; HYPERURICEMIA; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE RELATED GOUT; INDIA; INHERITANCE; JAPAN; KOREA; LESCH NYHAN SYNDROME; MALE; METHYLATION; MISSENSE MUTATION; MOLECULAR MECHANICS; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RARE DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; SPASTICITY;

EXONS; FAMILY HEALTH; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INDIA; JAPAN; KOREA; LESCH-NYHAN SYNDROME; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SYNDROME;

ATAXIA;

EID: 10344244531     PISSN: 15257770     EISSN: None     Source Type: Journal    
DOI: 10.1081/NCN-200027439     Document Type: Conference Paper

References (8)

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2. Yamada, Y.; Nomura, N.; Kitoh, H.; Wakamatsu, N.; Ogasawara, N. Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanease. Adv. Exp. Med. Biol. 2001, 486, 29-33.
3. Sculley, D.G.; Dawson, P.A.; Emmerson, B.T.; Gordon, R.B. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 1992, 90, 195-207.
4. Ogasawara, N.; Stout, J.T.; Goto, H.; Sonta, S.; Matsumoto, A.; Caskey, C.T. Molecular analysis of a female Lesch-Nyhan patient. J. Clin. Invest. 1989, 84, 1024-1027.
5. Ogasawara, N.; Yamada, Y.; Goto, H. HPRT gene mutations of a female Lesch-Nyhan patient. Adv. Exp. Med. Biol. 1992, 309B, 109-112.
6. Yamada, Y.; Goto, H.; Yukawa, T.; Akazawa, H.; Ogasawara, N. Molecular mechanisms of the second female Lesch-Nyhan patient. Adv. Exp. Med. Biol. 1995, 370, 337-340.
7. Aral, B.; Basile, G.S.; Al-Grawi, S.; Kamoun, P.; Ceballos-Picot, I. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. Human Mutat. 1996, 7, 52-58.
8. DeGregorio, L.; Nyhan, W.L.; Serafin, E.; Chamoles, N.A. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol. Genet. Metab. 2000, 69, 263-268.