Carrier Detection in Female Relatives of DMD/BMD Patients

Authors : Selahaddin TEKES, Selda SIMSEK, Meki BILICI, Turgay BUDAK

Pages : 7-10

View : 15 | Download : 6

Publication Date : 2012-06-01

Article Type : Research Paper

Abstract :Background: Duchenne Muscular Dystrophy insert ignore into journalissuearticles values(DMD); is one of most common and severe neuromuscular disease in men. It is an X-linked genetic disorder of muscle, which affects about 1 in 3500 male’s birth. Carrier detection is one of great importance for families with one or more sons affected with Duchenne Muscular Dystrophy or Becker Muscular Dystrophy insert ignore into journalissuearticles values(DMD/BMD);. The aim of this study was to determine the carrier status of female relatives in south eastern of Turkey families at high risk and families having a child affected with DMD/BMD. Method: The 66 female of relatives of DMD/BMD males were screened by Restriction Fragment Length Polymorphism insert ignore into journalissuearticles values(RFLP); using four intragenic probes. Results: This study indicated that 70 % of all relatives at risk were heterozygous for at least one of these intragenic RFLP, detected by PCR-RFLP. Conclusion: Marriage All these results provide useful information for DMD/BMD carrier status among female relatives of the patients for genetic counseling for South east of Turkey
Keywords : Duchenne Muscular Dystrophy DMD, , Becker Muscular Dystrophy BMD, , Carrier