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Journals / International Archives of Medical Research / 2012 / Cilt: 3 - Sayı: 1

Carrier Detection in Female Relatives of DMD/BMD Patients

Selahaddin TEKES
Selda SIMSEK
Meki BILICI
Turgay BUDAK
Pages
7–10
Publication Date
2012-06-01
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

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

📌 3 Key Takeaways

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Objective & Hypothesis:Background: Duchenne Muscular Dystrophy (DMD) is one of most common and severe neuromuscular disease in men.
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Key Findings & Data:It is an X-linked genetic disorder of muscle, which affects about 1 in 3500 male’s birth.
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Conclusion & Impact: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
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Duchenne Muscular Dystrophy (DMD) · Becker Muscular Dystrophy (BMD) · Carrier

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 Turkey

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Cite This Article

TEKES, S., SIMSEK, S., BILICI, M., BUDAK, T. (2012). Carrier Detection in Female Relatives of DMD/BMD Patients. International Archives of Medical Research, Cilt: 3 - Sayı: 1, 7–10. https://ajindex.com/articles/764828

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