Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis

  • Fardeen Ali Malayeri 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.
  • Mojtaba Panjehpour Department of Clinical Biochemistry, Isfahan Pharmaceutical Sciences Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Ahmad Movahedian Department of Clinical Biochemistry, Isfahan Pharmaceutical Sciences Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Majid Ghaffarpour Iranian Center of Neurological Research, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Gholam Reza Zamani Department of Neurology, Children Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Hajifaraj Tabrizi Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Mahdi Zamani Department of Neurogenetics, Iranian Center of Neurological Research, Imam Khomeini Hospital , Tehran University of Medical Sciences, Tehran, Iran. AND Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Keywords: Duchenne muscular dystrophy, Becker muscular dystrophy, Dystrophin deletions, Polymerase chain reaction, Carrier Detection, RFLP, Linkage analysis

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.

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How to Cite
1.
Malayeri FA, Panjehpour M, Movahedian A, Ghaffarpour M, Zamani GR, Tabrizi H, Zamani M. Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis. Acta Med Iran. 49(3):142-148.
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