Title of article :
Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis
Author/Authors :
Malayeri، Fardeen Ali نويسنده Department of Neurogenetics, Iranian Center of Neurological Research, Imam Khomeini Hospital , Tehran University of Medical Sciences, Tehran, Iran. AND Department of Clinical Biochemistry, Isfahan Pharmaceutical Sciences Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran. Malayeri, Fardeen Ali , Panjehpour، Mojtaba نويسنده Department of Clinical Biochemistry, School of Pharmacy and Pharmaceutical Sciences and Bioinformatics Research Center, Isfahan University of Medical Sciences, Isfahan, I.R. Iran. , , Movahedian، Ahmad نويسنده , , Ghaffarpour، Majid نويسنده Professor of Neurology, Iranian Center of Neurological Research , , ZAMANI، Gholam Reza نويسنده Neurology, Pediatrics Centre of Excellence, Department of Pediatric Neurology, Children’s Medical Centre, Tehran University of Medical Sciences, Tehra , , Tabrizi، Hajifaraj نويسنده Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Tabrizi, Hajifaraj , Zamani، Mahdi نويسنده ,
Issue Information :
ماهنامه با شماره پیاپی 0 سال 2011
Pages :
7
From page :
142
To page :
148
Abstract :

This study determines the value of linkage analysis using six RFLP markers for carrier detection and prenatal diagnosis in familial DMD/BMD cases and their family members for the first time in the Iranian population. We studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of DMD or BMD. Subsequently, we determined the rate of heterozygosity for six intragenic RFLP markers in the mothers of patients with dystrophin gene deletions. Finally, we studied the efficiency of linkage analysis by using RFLP markers for carrier status detection of DMD/BMD. In 63.6% of the patients we found one or more deletions. The most common heterozygous RFLP marker with 57.1% heterozygosity was pERT87.15Taq1. More than 80% of mothers in two groups of familial or non-familial cases had at least two heterozygous markers. Family linkage analysis was informative in more than 80% of the cases, allowing for accurate carrier detection. We found that linkage analysis using these six RFLP markers for carrier detection and prenatal diagnosis is a rapid, easy, reliable, and inexpensive method, suitable for most routine diagnostic services. The heterozygosity frequency of these markers is high enough in the Iranian population to allow carrier detection and prenatal diagnosis of DMD/BMD in more than 80% of familial cases in Iran.

Journal title :
Acta Medica Iranica
Serial Year :
2011
Journal title :
Acta Medica Iranica
Record number :
2391384
Link To Document :
بازگشت