[Use of CA repeat polymorphism in direct and indirect diagnosis of Duchenne and Becker muscular dystrophy].
BACKGROUND
DNA analysis makes it possible to confirm the clinical diagnosis of the majority of cases DMD/BMD and to detect at the same time carries and the prenatal diagnosis for relatives at risk. The objective of the present work was to improve the haplotype analysis and to identify the most frequent deletions in carries.


RESULTS
The method is based on the initial amplification of several DNA polymorphisms of CA repetitions and subsequent identification of alleles in the denaturation sequencing polyacrylamide gel using radioactive detection system. The system of CA polymorphisms provides information in the great majority of families, it detects the recombination in the DMD gene, which reduces to a minimum the risk of a diagnostic error and provides valuable information on the carriership of deletion.


CONCLUSIONS
The introduction of haplotype analysis of CA repetitions is beyond doubt an asset to the prenatal diagnosis of DMD/BMD and assessment of carriership of this serious hereditary disease. The variability of the length of alleles of these markers improves analysis, prenatal diagnosis and makes it possible to rule out or identify deletion in cca 40% carriers.
Musová
Z
Z
Odd. klinické genetiky I, FN Motol, Praha.
Mat'oska
V
V
Krejcová
S
S
Bóday
A
A
D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
D016189:Dystrophin