Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene

Indian Journal of Medical Research

Volumn 113, Issue JAN., 2001, Pages 19-25

  Chaturvedi, L S ^a   Srivastava, S ^a   Mukherjee, M ^a   Mittal, R D ^a   Phadke, S R ^a   Pradhan, S ^a   Mittal, B ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Carrier analysis; Dinucleotide (CA) repeats; Haplotype; Intragenic recombination; Linkage; Muscular dystrophy

Indexed keywords

CREATINE KINASE; DNA; DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; DINUCLEOTIDE REPEAT; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE LOCATION; GENE LOCUS; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MEIOSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RISK ASSESSMENT; TANDEM REPEAT;

DINUCLEOTIDE REPEATS; DYSTROPHIN; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 0035075292     PISSN: 09715916     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. A giant locus for the Duchenne and Becker muscular dystrophy gene
2. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
3. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
4. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
5. Detection of gene deletion in patients of Duchenne muscular dystrophy/Becker muscular dystrophy using polymerase chain reaction
6. Detection of dystrophin deletion carriers using FISH analysis
7. Prenatal diagnosis of Duchenne muscular dystrophy: Prospective linkage analysis and retrospective dystrophin cNDA analysis
8. Simple sequences are ubiquitous repetitive components of eukaryotic genomes
9. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
10. Genetic diagnosis of Duchenne/Becker muscular dystrophy; Clinical application and problems
11. Infraspinatus muscle hypertrophy and wasting of axillary folds as the important signs in Duchenne muscular dystrophy
12. Proportion and pattern of dystrophin gene deletions in north Indian Duchenne and Becker muscular dystrophy patients
13. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
14. Rapid detection of CA polymorphisms in cloned DNA: Application to the 5′ region of the dystrophin gene
15. An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene
16. Polynucleotide kinase from Escherichia coli infected with bacteriophage T4
17. Risk analysis
18. A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron
19. Linkage disequilibria among (CA)n polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies
20. Allelic frequencies of six (CA)n microsatellite markers of the dystrophin gene in the Korean population
21. Carrier detection and microsatellite analysis of Duchenne Becker muscular dystrophy in Spanish families
22. Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families
23. Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
24. Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families
25. Prenatal diagnosis of Duchenne muscular dystrophy in the Japanese population by fluorescent CA repeat polymorphism analysis
26. Carrier detection in Duchenne and Becker muscular dystrophy Argentine families
27. 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