- International Archives of Medical Research
- Vol: 3 Issue: 1
- Carrier Detection in Female Relatives of DMD/BMD Patients
Carrier Detection in Female Relatives of DMD/BMD Patients
Authors : Selahaddin Tekes, Selda Simsek, Meki Bilici, Turgay Budak
Pages : 7-10
View : 9 | Download : 3
Publication Date : 2012-06-01
Article Type : Research
Abstract :Background: Duchenne Muscular Dystrophy (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 (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 (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 TurkeyKeywords : Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Carrier