informative str markers for marfan syndrome in birjand, iran

نویسندگان

ezzat dadkhah department of human genetics, immunology research centre, avicenna research institute, mashhad university of medical science, mashhad, iran

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

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

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

چکیده

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.

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Informative STR Markers for Marfan Syndrome in Birjand, Iran

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عنوان ژورنال:
iranian journal of basic medical sciences

جلد ۱۵، شماره ۵، صفحات ۱۰۲۰-۱۰۲۵

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