Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 476, Issue 1-2, 2001, Pages 43-54

  Brooks, Elice M ^a   Branda, Richard F ^a   Nicklas, Janice A ^a   Patrick O'Neill, J ^a  

^a UNIVERSITY OF VERMONT   (United States)

Author keywords

Alu recombination; DNA deletion; HPRT mutations; Human mutations; Lesch Nyhan disease

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ALU SEQUENCE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; LESCH NYHAN SYNDROME; MALE; MONONUCLEAR CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALU ELEMENTS; BASE SEQUENCE; CELLS, CULTURED; DATABASES, FACTUAL; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; GENE DUPLICATION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INTRONS; LESCH-NYHAN SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0035832372     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(01)00065-3     Document Type: Article

References (21)

1. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
2. Automated DNA sequencing of the human HPRT locus
3. Molecular description of a HPRT deletion in Lesch-Nyhan syndrome
4. Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the HPRT gene in five patients with Lesch-Nyhan syndrome
5. Molecular structure and genetic stability of human HPRT gene duplications
6. Duplication in the HPRT gene by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome
7. Montreal) by use of T-lymphocyte cultures
8. Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures
9. Identificacion de una neuva mutacion como causa del syndrome de Lesch-Nyhan en una familia peruana: Utilidad del examen molecular para el consejo genetico
10. Brasil) and analysis of potentially heterozygous females
11. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
12. Amplification of cDNA from the lysate of a small clone of diploid human cells and direct DNA sequencing
13. Multiplex DNA deletion detection and exon sequencing of the HPRT gene in Lesch-Nyhan families
14. Breakpoints and junctional regions of intragenic deletions in the HPRT gene in human T-cells
15. Development of long PCR techniques to analyze deletion mutations of the human HPRT gene
16. Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum
17. Nucleotide sequence analysis of human HPRT gene deletions
18. Revision of consensus sequence of human Alu-repeats - A review
19. Alu-repeats and human disease