Carrier Detection in Female Relatives of DMD/BMD Patients

Autor:	TEKES, Selahaddin, SIMSEK, Selda, BILICI, Meki, BUDAK, Turgay
Rok vydání:	2012
Předmět:	musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Duchenne Muscular Dystrophy (DMD) Becker Muscular Dystrophy (BMD) Carrier
Zdroj:	Volume: 3, Issue: 1 7-10 International Archives of Medical Research
ISSN:	2146-6033
Popis:	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
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=tubitakulakb::4e6d483472ec3d3a5fdd62b4154302f2 https://dergipark.org.tr/tr/pub/iamr/issue/25879/272692 Zobrazit plný text záznamu