Article
Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR.
Clinical genetics - 1 May 1993
Gökgöz N, Kuseyri F, Topaloğlu H, Yüksel-Apak M, Kirdar B
Abstract excerpt
We have screened 76 DMD and 5 BMD patients for deletions, using two separate Multiplex gene amplification systems. The use of both systems together revealed deletions in 52% of the cases in the Turkish population. The majority of these deletions (33/37) were found to be localized within the centr...
Topics
- Adult
- Child
- Dystrophin
- Gene Deletion
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Humans
- Male
- Muscular Dystrophies
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis
- Turkey