Carrier Detection in Female Relatives of DMD/BMD Patients

Yıl 2012, Cilt: 3 Sayı: 1, 7 - 10, 01.06.2012

Selahaddin Tekes Selda Sımsek Meki Bılıcı Turgay Budak

Öz

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 Turkey

Anahtar Kelimeler

Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Carrier

Kaynakça

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