Informative STR Markers for Marfan Syndrome in Birjand, Iran

  • سال انتشار: 1391
  • محل انتشار: مجله علوم پایه پزشکی ایران، دوره: 15، شماره: 5
  • کد COI اختصاصی: JR_IJBMS-15-5_004
  • زبان مقاله: انگلیسی
  • تعداد مشاهده: 267
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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

Mohammad Reza Abbaszadegan

Department of Human Genetics, Immunology Research Centre, Avicenna Research Institute, Mashhad University of Medical Science, Mashhad, 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-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.

کلیدواژه ها

Linkage analysis, Marfan syndrome, Microsatellite, MTS

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