Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome

Nucleosides, Nucleotides and Nucleic Acids

Volumn 23, Issue 8-9, 2004, Pages 1173-1176

  Mizunuma, Makiko ^a   Yamada, Yasukazu ^b   Yamada, Kenichiro ^b   Sonta, Shin Ichi ^b   Wakamatsu, Nobuaki ^b   Kaneko, Kiyoko ^a   Ogasawara, Nobuaki ^b   Fujimori, Shin ^a  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

HPRT1; Lesch Nyhan syndrome; Mutation; Translocation

Indexed keywords

GENOMIC DNA;

3' RAPID AMPLIFICATION OF COMPLEMENTARY DNA ENDS POLYMERASE CHAIN REACTION; CHROMOSOME XQ; CONFERENCE PAPER; CONTROLLED STUDY; DNA DETERMINATION; EXON; GENE; GENE AMPLIFICATION; GENE DISRUPTION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENOME; GENOMIC INSTABILITY; GERM CELL; HPRT GENE; HPRT1 GENE; HUMAN; HUMAN CELL; INTRON; LESCH NYHAN SYNDROME; LYMPHOBLAST; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; TELOMERE;

CHROMOSOMES, HUMAN, X; DATABASES; DNA, COMPLEMENTARY; EXONS; GERM CELLS; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INTRONS; LESCH-NYHAN SYNDROME; MODELS, GENETIC; MUTATION; TELOMERE; TRANSLOCATION, GENETIC;

EID: 10344260203     PISSN: 15257770     EISSN: None     Source Type: Journal    
DOI: 10.1081/NCN-200027441     Document Type: Conference Paper

References (5)

1. Edwards, A.; Voss, H.; Rice, P.; Civitello, A.; Stegemann, J.; Schwager, C.; Zimmermann, J.; Erfle, H.; Caskey, C.T.; Ansorge, W. Automated DNA sequencing of the human HPRT locus. Genomics 1990, 6, 593-608.
2. Jinnah, H.A.; De Gregorio, L.; Harris, J.C.; Nyhan, W.L.; O'Neill, J.P. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat. Res. 2000, 463, 309-326.
3. Mizunuma, M.; Fujimori, S.; Ogino, H.; Ueno, T.; Inoue, H.; Kamatani, N. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. Human Mutat. 2001, 18, 435-443.
4. Gibbs, R.A.; Nguyen, P.N.; Edwards, A.; Civitello, A.B.; Caskey, C.T. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 1990, 7, 235-244.
5. Yamada, Y.; Goto, H.; Suzumori, K.; Adachi, R.; Ogasawara, N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 1992, 90, 379-384.