Informative STR Markers for Marfan Syndrome in Birjand, Iran

Dadkhah, Ezzat and Ziaee, Masood and Davari, Mohammad Hossein and Kazemi, Toba and Abbaszadegan, Mohammad Reza (2012) Informative STR Markers for Marfan Syndrome in Birjand, Iran. Iranian Journal of Basic Medical Sciences, 15 (5). pp. 1020-1025.

IJBMS_Volume 15_Issue 5_Pages 1020-1025.pdf

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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.

Item Type: Article
Subjects: QT physiology
Divisions: Journals > Iranian J Basic Medical Sciences
Depositing User: ijbms ijbms
Date Deposited: 25 Oct 2017 15:36
Last Modified: 25 Oct 2017 15:36

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