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Paper Information

Journal:   JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH   SUMMER 2007 , Volume 15 , Number 59; Page(s) 65 To 76.
 
Paper: 

DETECTION OF SUSPECTED DUCHENNE MUSCULAR DYSTROPHY CARRIERS BY MICROSATELLITE MARKERS APPLICATION

 
 
Author(s):  ZEYNAL ZADEH NIGH N., JABARPOUR BONYADI MORTEZA*, BARZEGAR MOHAMMAD
 
* DEPARTMENT OF GENETIC, FACULTY OF NATURAL SCIENCE, TABRIZ UNIVERSITY, IRAN
 
Abstract: 

Background and Objective: Duchenne Muscular Dystrophy (DMD) is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is the consequence of mutations in dystrophin gene located on X chromosome. Inheritance pattern of the disease is gene-dependent recessive with an incidence of one in 3500 alive male newborns. Due to the absence of efficient treatment, detection of female carriers is essential for genetic counselling and prenatal diagnosis.
Materials and Methods: 14 DMD families were referred to the genetic laboratory by specialists. DNA was extracted from the whole peripheral blood and analyzed by gene tracking technique. All members of the families were studied through 7 microsatellites located in and around dystrophin gene.
Results: 37 females at the risk of being DMD carriers and 7 obligate carriers were studied and ultimately 27 females (72.97 %) were identified as carriers or non-carriers.
Conclusion: In the families who were diagnosed as DMD patients by clinical and preclinical procedure's gene tracking is a reliable and less expensive technique for female carrier-status identification with a 95-100% confidence.

 
Keyword(s): DUCHENNE MUSCULAR DYSTROPHY, CARRIER IDENTIFICATION, MICROSATELLITE MARKERS
 
References: 
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