title: Detection of Duchenne/Becker muscular dystrophy carriers in a group of Iranian families by 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.
authors.affiliation: Department of Neurogenetics, Iranian Center of Neurological Research, Imam Khomeini Hospital,Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fardeen Ali
authors.initials: FA
authors.lastname: Malayeri
authors.forename: Mojtaba
authors.initials: M
authors.lastname: Panjehpour
authors.forename: Ahmad
authors.initials: A
authors.lastname: Movahedian
authors.forename: Majid
authors.initials: M
authors.lastname: Ghaffarpour
authors.forename: Gholam Reza
authors.initials: GR
authors.lastname: Zamani
authors.forename: Mina Hajifaraj
authors.initials: MH
authors.lastname: Tabrizi
authors.forename: Mahdi
authors.initials: M
authors.lastname: Zamani
mesh_terms: D016189:Dystrophin / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007492:Iran; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
chemical_list: D016189:Dystrophin