DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene

Neuromuscular Disorders

Volumn 12, Issue 9, 2002, Pages 845-848

  Dolinsky, Luciana C B ^a   De Moura Neto, Rodrigo S ^b   Falcão Conceição, Daisy Neves ^a  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b Rua Visconde de Piraj   (Brazil)

Author keywords

Carrier mothers; Denaturing gradient gel electrophoresis analysis; Duchenne muscular dystrophy; Nonsense mutation

Indexed keywords

DYSTROPHIN; GENOMIC DNA;

ADULT; ARTICLE; BRAZIL; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MOTHER; MOUSE; POINT MUTATION; PRIORITY JOURNAL;

BRAZIL; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; NUCLEIC ACID DENATURATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0036837236     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00069-X     Document Type: Article

References (19)

1. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
2. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
3. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype genotype correlation
4. Deletion screening of the Duchenne muscular dystrophy locus multiplex DNA amplification
5. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
6. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism
7. Detection of single base changes in nucleic acids
8. Improved detection of mutations in the p 53 gene in human tumors as single-strand conformation polymorphisms and double-strand heteroduplex DNA
9. Protein truncation test (PTT) to rapidly screen the DMD gene for translation-terminating-mutations
10. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
11. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
12. Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis
13. DNA fragments differing by a single base-pair substitution are separated in denaturing gradient gels: correspondence with melting theory
14. Detection and localization of single base changes by denaturing gradient gel electrophoresis
15. Spectrum of small mutations in the dystrophin coding region
16. On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
17. DNA analysis of Brazilian Duchenne muscular dystrophy families using (CA)n microsatellite markers
18. Germ-line origin of new mutations in the dystrophin gene