A recurrent large alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with lesch-nyhan syndrome

Human Mutation

Volumn 18, Issue 5, 2001, Pages 435-443

  Mizunuma, Makiko ^a   Fujimori, Shin ^a,e   Ogino, Hitoshi ^b,c   Ueno, Takamasa ^d   Inoue, Hirokazu ^e   Kamatani, Naoyuki ^d  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Hyogo Prefectural Amagasaki Hospital   (Japan)

^c KUMAMOTO UNIVERSITY   (Japan)

^d SAITAMA UNIVERSITY   (Japan)

^e Tokyo Womens Medicine University   (Japan)

Author keywords

Alu mediated deletion; Gout, HPRT related; HPRT deficiency; HPRT1; Kelley seegmiller syndrome; KSS; Lesch nyhan syndrome; LNS; MtDNA; Recombination

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA POLYMORPHISM; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; HUMAN; JAPAN; LESCH NYHAN SYNDROME; PATHOGENESIS; PRIORITY JOURNAL;

ALTERNATIVE SPLICING; ALU ELEMENTS; BASE SEQUENCE; CELL LINE, TRANSFORMED; CHROMOSOME BREAKAGE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EXONS; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INTRONS; LESCH-NYHAN SYNDROME; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 0035163832     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1214     Document Type: Article

References (36)

1. Lesch-Nyhan syndrome: Carrier and prenatal diagnosis
2. Sequence and organization of the human mitochondrial genome
3. Heteroplasmic point mutations in the human mtDNA control region
4. Software for the analysis of mutations at the human hprt gene
5. Automated DNA sequencing of the human HPRT locus
6. The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease
7. Use of carrier detection tests to estimate male to female ratio of mutation rates in Lesch-Nyhan disease
8. Hypoxanthine guanine phosphoribosyltransferase deficiency: Nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese
9. V(D)J recombinase-like activity mediates hprt gene deletion in human fetal T-lymphocytes
10. V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans
11. Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome
12. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribsyltransferase (HPRT) gene in Lesch-Nyhan families
13. Maternal inheritance of human mitochondrial DNA
14. Spectrum of spontaneous HPRT mutations in TK6 human lymphoblasts
15. The molecular characterization of HPRT CHERMSIDE and HPRT COORPAROO: Two Lesch-Nyhan patients with reduced amounts of mRNA
16. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA
17. mtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan
18. Development of long PCR techniques to analyze deletion mutations of the human hprt gene
19. The spectrum of inherited mutations causing HPRT deficiency: 75 New cases and a review of 196 previously reported cases
20. Isolation and characterization of a full length expressible cDNA for human hypoxanthine hpospho-ribosyltranceferase
21. A specific enzyme defect in gout associated with overproduction of uric acid
22. Molecular analysis of hypoxanthine guanine phosphoribosyl-transferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome
23. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome
24. Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions
25. Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplication
26. Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts
27. Fine structure of the human hypoxanthine phosphoribosyltransferase gene
28. Molecular analysis of hprt mutants induced by 2-cyanoethylene oxide in human lymphoblastoid cells
29. One short well-conserved region of Alu-sequence is involved in human gene rearrangements and has homology with prokaryotic chi
30. Enzyme defect associated with sex-linked human neurological disorder and excessive purine synthesis
31. The mutation rate in the human mtDNA control region
32. Molecular characterization of two deletion events involving Alu-sequence, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
33. African populations and the evolution of human mitochondrial DNA
34. Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency
35. Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients
36. Sequence polymorphism of mitochondrial DNA and its forensic application