Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome

Human Mutation

Volumn 10, Issue 4, 1997, Pages 310-316

  Ariga, Tadashi ^a   Yamada, Masafumi ^a   Ito, Sukeyuki ^b   Iwamura, Mika ^c   Iseki, Mikiro ^c   Sakiyama, Yukio ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c Tokyo Metropolitan Ohtsuka Hospital   (Japan)

Author keywords

Large deletion mutation; Palindrome sequence; WASP gene; Wiskott Aldrich syndrome

Indexed keywords

PROTEIN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE MUTATION; HUMAN; INFANT; INTRON; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; WISKOTT ALDRICH SYNDROME;

BASE SEQUENCE; BLOTTING, SOUTHERN; EXONS; HUMANS; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

VESPIDAE;

EID: 0030964591     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:4<310::AID-HUMU7>3.0.CO;2-K     Document Type: Article

References (6)

1. Ariga T, Carter PE, Davis AE III (1990) Recombinations between Alu repeat sequences that result in deletions within the Cl inhibitor gene. Genomics 8:607-613.
2. Ariga T, Yamada M, Sakiyama Y (1997) Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods. Pediatr Res 41:535-540.
3. Derry JMJ, Ochs HD, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78 635-644.
4. Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
5. Lehrman MA, Schneider WJ, Sudhof TC, Brown MS, Goldstein JL, Rassell DW (1985) Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 227:140-146.
6. Lehrman MA, Rassell DW, Goldstein JL, Brown MS (1987) Alu-Alu recombination deletes splice acceptor in a subject with familial hypercholesterolemia. J Biol Chem 262:3354-3361.