12th Iranian Congress of Biochemistry and 4th International Congress of Biochemistry and Molecular Biology
Mashhad, Iran, September 6-9, 2011
mashhad university of medical sciences - ‫دانشگاه علوم پزشکی و خدمات بهداشتی درمانی مشهد‬
www.mums.ac.ir - vcresearch@mums.ac.ir
A Survey for linkage disequilirium (LD) between two novel
microsatellite loci located in F8 genomic region in Iranian
population
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Esmat Fazel ,
Sadeq Vallian
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Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Islamic Republic of Iran
Introduction: Hemophilia A is an X-linked disorder that is caused by heterogeneous mutations in the
coagulation factor 8 (F8) gene. In view of the large numbers of mutations and deletion in F8 gene, and
the fact that some of the mutations are new, application of polymorphic microsatellite markers has
proven to be useful for tracking the mutated gene in families with affected individual. Diagnosis of
carriers in hemophilia A is carried out by both RFLP and short tandem repeats (STRs) markers. There are
two major issues to be considered for selection of any marker to be typed in Hemophilia A carriers: i) the
informativeness (i.e. heterozygosity) of the marker used, and, ii) the linkage status of the marker. In our
study we have analyzed linkage disequilibrium between two STRs on the F8 genomic region to
investigate their reliability for hemophilia A carrier detection in Iranian population. Material and
methods: STR markers named HA472 and F8int21 were genotyped. Total genomic DNA was extracted
from 164 unrelated individuals by salting-out method. The markers were genotyped using PCR
amplification followed by polyacrylamide gel electrophoresis and sequencing. The data were analyzed by
population genetic softwares to determine heterozygosity of each STR and to estimate linkage
disequilibrium between the two markers. Results and discussion: The data suggested that both HA472
and F8int21 could be considered as useful markers in carrier detection and prenatal diagnosis of F8 gene
mutations in Iranian population.
Keywords: Linkage disequilirium, Microsatellite markers