title: Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.
abstract: In this study, we have identified a novel mechanism of mutation involving translocation between the HPRT1 loci and other loci on the X chromosome. In HRT-25's cDNA obtained from a patient with Lesch-Nyhan syndrome, the upstream region of exon 3 was amplified, but the full-length region was not amplified. The use of 3' rapid amplification of cDNA ends polymerase chain reaction (3'RACE-PCR) for HRT-25 revealed part of intron 3 and an unknown sequence which have not identified the HPRT1 gene starting at the 3' end of exon 3. We analyzed HPRT1 genomic DNA in order to confirm the mutation with the unknown sequence in the genomic DNA. Unknown sequence compared through BLAST analysis of human genome (NCBI; http://www.ncbi.nlm.nih.gov/BLAST/) showed that at least 0.5 to 0.6-Mb telomeric to HPRT1 on chromosome Xq where located near LOC340581. This study provides the molecular basis for the involvement of genomic instability in germ cells.
authors.affiliation: Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Mizunuma
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Yamada
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Sonta
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kaneko
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Ogasawara
authors.forename: Shin
authors.initials: S
authors.lastname: Fujimori
mesh_terms: D041321:Chromosomes, Human, X; D018076:DNA, Complementary / Q000378:metabolism; D019992:Databases as Topic; D005091:Exons; D005854:Germ Cells; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007438:Introns; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008957:Models, Genetic; D009154:Mutation; D016615:Telomere / Q000648:ultrastructure; D014178:Translocation, Genetic
chemical_list: D018076:DNA, Complementary; D007041:Hypoxanthine Phosphoribosyltransferase