Informative STR Markers for Marfan Syndrome in Birjand, Iran | ||
| Iranian Journal of Basic Medical Sciences | ||
| مقاله 4، دوره 15، شماره 5، آذر 2012، صفحه 1020-1025 اصل مقاله (545.13 K) | ||
| نوع مقاله: Original Article | ||
| شناسه دیجیتال (DOI): 10.22038/ijbms.2012.4908 | ||
| نویسندگان | ||
| Ezzat Dadkhah1؛ Masood Ziaee2؛ Mohammad Hossein Davari3؛ Toba Kazemi4؛ Mohammad Reza Abbaszadegan* 1، 5 | ||
| 1Department of Human Genetics, Immunology Research Centre, Avicenna Research Institute, Mashhad University of Medical Science, Mashhad, Iran | ||
| 2Birjand Hepatitis Research Centre, Birjand University of Medical Sciences, Birjand, Iran | ||
| 3Ophthalmology Department, Vali-e-Asr Hospital, Birjand University of Medical Sciences, Iran | ||
| 4Birjand Atherosclerosis and Coronary Artery Research Centre, Birjand University of Medical Sciences, Birjand, Iran | ||
| 5Medical Genetic Research Centre (MGRC), School of Medicine, Mashhad University of Medical Sciences, 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-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 Methods An 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. Results MTS1, MTS2, and MTS3 were informative in the extended pedigree. D5S1028 was the only non-MTS marker which showed an informative diagnostic capability. Conclusion MTS 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. | ||
| کلیدواژهها | ||
| Linkage analysis؛ Marfan syndrome؛ Microsatellite؛ MTS | ||
| مراجع | ||
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