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Iranian Journal of Basic Medical Sciences، جلد ۱۵، شماره ۵، صفحات ۱۰۲۰-۱۰۲۵
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عنوان انگلیسی Informative STR Markers for Marfan Syndrome in Birjand, Iran
چکیده انگلیسی مقاله Objective(s)Marfan syndrome (MFS) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. Early diagnosis is critical in MFS. Because of the large size of fibrillin-1 gene (FBN1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of MFS. In this study, eight polymorphic markers were evaluated among families related to an affected pedigree.Materials and MethodsAn extended family in Birjand, Iran, with numerous cases of Marfan Syndrome in three consecutive generations, is being reported. From all consented members of these families, peripheral blood samples were collected in tubes containing EDTA. DNA extraction was performed by the conventional salting-out method. Eight STR markers were selected for linkage analysis, including four intragenic markers (MTS1, MTS2, MTS3, and MTS4) and another four flanking FBN1 markers (D15S119, D15S126, D15S1028, and D15S143). PCR-amplified fragments were evaluated on 15% polyacrylamide gel.ResultsMTS1, MTS2, and MTS3 were informative in the extended pedigree. D5S1028 was the only non-MTS marker which showed an informative diagnostic capability.ConclusionMTS markers were informative and useful in the molecular diagnosis of Marfan Syndrome in an extended pedigree. MTS1, MTS2, and MTS3 can be used as a prenatal or presymptomatic diagnosis for all members of the extended pedigree.
کلیدواژه‌های انگلیسی مقاله Linkage analysis, Marfan syndrome, Microsatellite, MTS
نویسندگان مقاله عزت دادخواه | ezzat dadkhah
department of human genetics, immunology research centre, avicenna research institute, mashhad university of medical science, mashhad, iran


مسعود ضیایی | masood ziaee
birjand hepatitis research centre, birjand university of medical sciences, birjand, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بیرجند (Birjand university of medical sciences)

محمد حسین داوری | mohammad hossein davari
ophthalmology department, vali-e-asr hospital, birjand university of medical sciences, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بیرجند (Birjand university of medical sciences)

طوبی کاظمی | toba kazemi
birjand atherosclerosis and coronary artery research centre, birjand university of medical sciences, birjand, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بیرجند (Birjand university of medical sciences)

محمدرضا عباس زادگان | mohammad reza abbaszadegan
department of human genetics, immunology research centre, avicenna research institute, mashhad university of medical science, mashhad, iran|medical genetic research centre mgrc , school of medicine, mashhad university of medical sciences, mashhad, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

نشانی اینترنتی http://ijbms.mums.ac.ir/article_4908.html
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