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" The study of dystrophin gene RFLP and STR markers for Duchenne and Becker muscular dystrophy carrier detection of Iranian families by using linkage analysis. Fardin Ali Malayeri "
/فردین علی ملایری
; Mojtaba Panjehpour, Mahdi Zamani, Ahmad Movahedian
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Isfahan University of Medical Sciences
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| Document Type
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Latin Dissertation
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English
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| Record Number
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102793
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| Doc. No
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T12392
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WE,500,M239s,2010
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| Main Entry
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Malayeri, Fardiin Ali
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| Title & Author
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The study of dystrophin gene RFLP and STR markers for Duchenne and Becker muscular dystrophy carrier detection of Iranian families by using linkage analysis. Fardin Ali Malayeri/فردین علی ملایری
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| College
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Schools, Pharmacy
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| Date
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, 2010
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| Degree
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Clinical Biochemistry, Ph.D
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| Page No
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132 p.: ill ( som col ), tab
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This thesis is also a resesarch project with project ID 386383
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Orginal Works
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| Abstract
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Introduction: Muscular dystrophies are a group of genetic diseases characterized by progressive atrophy of muscles. The Duchenne and Becker types 'of muscular dystrophy are X-linked recessive diseases and primarily affect the skeletal muscles and the muscles of the heart. This study tries to assess the application of molecular diagnostic of linkage analysis using RFLP and STR markers for carrier detection in a group of Iranian familial DMD/BMD cases and their family members.Methods: 21 Iranian families with DMD/BMD patients with ░fie ' Or more exon deletions in their dystrophin genes had been selected. The rate of heterozygosity of six intragenic RFLP markers and four STR markers were determined in the mothers of these families. Carrier detection in the female members of obligate carrier mothers was performed by linkage analysis. The RFLP and STR markers were amplified by PCR reaction , then cut by appropriate restriction enzyme and finally separated by poly acrylamide gel electrophoresis. The RFLP and STR pattern of products were compared in each family. The efficiency of linkage analysis for carrier status detection of DMD/BMD in female relatives of patients was analyzed. Results: pERT87.15 Tag/ was the most observed heterozygous RFLP marker (almost 57 heterozygosity) and pERT87.8/Taq1 was the least heterozygous RFLP marker (about 33 heterozygosity). We found STR 49 as the most heterozygous STR marker (52.3 ) but STR 3'CA was the least heterozygous STR marker (about 14 heterozygosity). 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 familial cases, allowing for accurate carrier detection. Conclusion: We found that linkage analysis using these six RFLP and four STR markers for carrier detection 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 disease in more than 80 of familial cases in Iran..
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| Descriptor
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1. Muscle Proteins.- Descriptors: Muscle Proteins
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Dystrophin
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Muscular Dystrophy, Duchenne
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Polymorphism, Restriction Fragment Length
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Genetic Linkage
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Panjehpour, Mojtaba, Supervisor
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Zamani, Mahdi, Supervisor
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Movahedian, Ahmad, Supervisor
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| Translated Title Supplied by Cataloguer
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بررسی مارکرهای RFLP و STR های ژن دیستروفین برای تشخیص ناقلین بیماری دیستروفی عضلانی دوشن و بکر در خانواده بیماران ایرانی با استفاده از آنالیز پیوستگی ( ( Linkage Analysis
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