Mutation analysis with X linked muscular dystrophy families referred to genetics diagnostic laboratory

SUMMARY MUTATION ANALYSIS WITH X LINKED MUSCULAR DYSTROPHY FAMILIES REFERRED TO GENETICS DIAGNOSTIC LABORATORY Selda SİMSEK Duchenne and Becker Muscular Dystrophy (DMD/BMD) are X linked recessive, neuromuscular disorders that result from mutations in the dystrophin gene. The majority of this mutations ( approximately 60 %) are intragenic deletions, which can be determined by PCR analysis. Thirty DMD and ten BMD patients from ten different families have been screened for deletions, using two separate multiplex gene amplification sets. The application of multiplex II gene amplification set in conjunction with multiplex I gene amplification set determined deletions in 38 % of the cases. The informativeness of multiplex II gene amplification set was found to be higher than that of multiplex I set among the patients with deletion. Sixtysix female relatives of patients, who were at risk of being carrier, have been screened for pERT 87-15/Xmn I, pERT 87-15/ Bam HI, pERT 87-8/Taq I and I 38/Taq I polymorphisms within the dystrophin gene by PCR-RFLP analysis. We found that 91 % (60 female) of all females at risk were heterozygous for at least one of these four RFLPs. We hope that; all these results may be useful for planning prenatal diagnosis programmes for DMD/BMD. Key Words : Duchenne/Becker Muscular Dystrophy, Multiplex Polymerase Chain Reaction, Restriction Enzyme Fragment Length Polymorphism, Deletion, Carrier Detection, Polymorphism. vm