Carrier Detection in Female Relatives of DMD/BMD Patients

Selahaddin TEKES; Selda SIMSEK; Meki BILICI; Turgay BUDAK

Makale detayları

Carrier Detection in Female Relatives of DMD/BMD Patients

Yazarlar:

Selahaddin TEKES | Selda SIMSEK | Meki BILICI | Turgay BUDAK

Yayıncı:

Veysi AKPOLAT

Dergi:

International Archives of Medical Research 2012 Vol.3 Issue 1, pp.7-10

Belge Tipi:

Makale

Yayın Tarihi:

5/2012

Belge Dili:

Türkçe

Document ID (Org No.):

2000470385

Sıklık:

İki Yıllık

pISSN:

2146-6033

Özet:

 

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.

Makale detayları

Carrier Detection in Female Relatives of DMD/BMD Patients

Yazarlar: Selahaddin TEKES | Selda SIMSEK | Meki BILICI | Turgay BUDAK

Yayıncı: Veysi AKPOLAT

Dergi: International Archives of Medical Research 2012 Vol.3 Issue 1, pp.7-10

Belge Tipi: Makale

Yayın Tarihi: 5/2012

Belge Dili: Türkçe

Document ID (Org No.): 2000470385

Sıklık: İki Yıllık

pISSN: 2146-6033

Sayı

Yazarlar:

Selahaddin TEKES | Selda SIMSEK | Meki BILICI | Turgay BUDAK

Yayıncı:

Veysi AKPOLAT

Dergi:

International Archives of Medical Research 2012 Vol.3 Issue 1, pp.7-10

Belge Tipi:

Makale

Yayın Tarihi:

5/2012

Belge Dili:

Türkçe

Document ID (Org No.):

2000470385

Sıklık:

İki Yıllık

pISSN:

2146-6033