Informative STR Markers for Marfan Syndrome in Birjand, Iran

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-۱ gene (FBN۱), 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 (MTS۱, MTS۲, MTS۳, and MTS۴) and another four flanking FBN۱ markers (D۱۵S۱۱۹, D۱۵S۱۲۶, D۱۵S۱۰۲۸, and D۱۵S۱۴۳). PCR-amplified fragments were evaluated on ۱۵% polyacrylamide gel.ResultsMTS۱, MTS۲, and MTS۳ were informative in the extended pedigree. D۵S۱۰۲۸ 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. MTS۱, MTS۲, and MTS۳ can be used as a prenatal or presymptomatic diagnosis for all members of the extended pedigree.

Keywords:

Linkage analysis , Marfan syndrome , Microsatellite , MTS