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Informative STR Markers for Marfan Syndrome in Birjand, Iran

Ezzat Dadkhah1, Masood Ziaee, Mohammad Hossein Davari

  • 1Department of Human Genetics, Immunology Research Centre, Avicenna Research Institute, Mashhad University of Medical Science, Mashhad, Iran.

Iranian Journal of Basic Medical Sciences
|March 16, 2013
PubMed
Abstract

Insights

Linkage analysis using MTS markers aids in early Marfan syndrome diagnosis. MTS1, MTS2, and MTS3 are valuable for prenatal and presymptomatic Marfan syndrome testing in affected families.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Diagnostics

Background:

  • Marfan syndrome (MFS) is a severe autosomal dominant connective tissue disorder.
  • Early diagnosis of MFS is crucial for effective management.
  • The large fibrillin-1 gene (FBN1) and mutation variability complicate direct genetic diagnosis.

Purpose of the Study:

  • To evaluate the utility of polymorphic markers for linkage analysis in diagnosing Marfan syndrome.
  • To identify informative markers for early diagnosis within an extended Iranian pedigree.

Main Methods:

  • Collected blood samples from an extended family with multiple MFS cases across three generations.
  • Performed DNA extraction and utilized eight Short Tandem Repeat (STR) markers for linkage analysis.
  • Analyzed PCR-amplified fragments on polyacrylamide gels.

Main Results:

  • MTS1, MTS2, and MTS3 markers proved informative for linkage analysis in the pedigree.
  • D15S1028 was the sole non-MTS marker demonstrating diagnostic utility.
  • The selected MTS markers were effective in identifying MFS within the family.

Conclusions:

  • MTS markers are valuable tools for the molecular diagnosis of Marfan syndrome.
  • MTS1, MTS2, and MTS3 offer potential for prenatal and presymptomatic MFS diagnosis in this family.
  • Linkage analysis provides a viable strategy for early MFS detection when direct mutation analysis is challenging.
Keywords:
Linkage analysisMTSMarfan syndromeMicrosatellite

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