Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis
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...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Tehran University of Medical Sciences
2011-03-01
|
Series: | Acta Medica Iranica |
Subjects: | |
Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/3712 |
id |
doaj-769be0f9ee8f46e78a4f31c14e0ed84e |
---|---|
record_format |
Article |
spelling |
doaj-769be0f9ee8f46e78a4f31c14e0ed84e2020-11-25T02:50:30ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942011-03-01493Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage AnalysisFardeen Ali Malayeri0Mojtaba Panjehpour1Ahmad Movahedian2Majid Ghaffarpour3Gholam Reza Zamani4Hajifaraj Tabrizi5Mahdi Zamani6Department 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.Department of Clinical Biochemistry, Isfahan Pharmaceutical Sciences Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.Department of Clinical Biochemistry, Isfahan Pharmaceutical Sciences Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.Iranian Center of Neurological Research, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.Department of Neurology, Children Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.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.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. https://acta.tums.ac.ir/index.php/acta/article/view/3712Duchenne muscular dystrophyBecker muscular dystrophyDystrophin deletionsPolymerase chain reactionCarrier DetectionRFLP |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Fardeen Ali Malayeri Mojtaba Panjehpour Ahmad Movahedian Majid Ghaffarpour Gholam Reza Zamani Hajifaraj Tabrizi Mahdi Zamani |
spellingShingle |
Fardeen Ali Malayeri Mojtaba Panjehpour Ahmad Movahedian Majid Ghaffarpour Gholam Reza Zamani Hajifaraj Tabrizi Mahdi Zamani Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis Acta Medica Iranica Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deletions Polymerase chain reaction Carrier Detection RFLP |
author_facet |
Fardeen Ali Malayeri Mojtaba Panjehpour Ahmad Movahedian Majid Ghaffarpour Gholam Reza Zamani Hajifaraj Tabrizi Mahdi Zamani |
author_sort |
Fardeen Ali Malayeri |
title |
Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis |
title_short |
Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis |
title_full |
Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis |
title_fullStr |
Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis |
title_full_unstemmed |
Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis |
title_sort |
detection of duchenne/becker muscular dystrophy carriers in a group of iranian families by linkage analysis |
publisher |
Tehran University of Medical Sciences |
series |
Acta Medica Iranica |
issn |
0044-6025 1735-9694 |
publishDate |
2011-03-01 |
description |
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.
|
topic |
Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deletions Polymerase chain reaction Carrier Detection RFLP |
url |
https://acta.tums.ac.ir/index.php/acta/article/view/3712 |
work_keys_str_mv |
AT fardeenalimalayeri detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis AT mojtabapanjehpour detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis AT ahmadmovahedian detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis AT majidghaffarpour detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis AT gholamrezazamani detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis AT hajifarajtabrizi detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis AT mahdizamani detectionofduchennebeckermusculardystrophycarriersinagroupofiranianfamiliesbylinkageanalysis |
_version_ |
1724738145232093184 |