title: Detection of hemophilia a carriers in Azeri Turkish population of Iran: usefulness of HindIII and BclI markers.
abstract: Hemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited from the Azeri Turkish population of northwest Iran and analyzed for BclI and HindIII markers by polymerase chain reaction-restriction fragment length polymorphism. We investigated the potential of using these markers for the detection of mutation in carriers through linkage analysis, which would be of tremendous use in prenatal diagnosis. Among the tested women, 47% and 35% were found to be heterozygous for BclI and HindIII polymorphic markers, respectively. The BclI and HindIII markers were informative for the detection of 63% and 17% potential carriers, respectively, demonstrating the effectiveness of the BclI marker for the detection of HA carriers among the Azeri Turkish population.
authors.affiliation: Department of Medical genetics, Tabriz University of Medical Sciences, Tabriz, Iran Students' research committee, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Tamouchin
authors.initials: T
authors.lastname: Moharrami
authors.affiliation: Department of Medical genetics, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Sima Mansoori
authors.initials: SM
authors.lastname: Derakhshan
authors.affiliation: Hematology/Oncology Research Center, Tabriz University Of Medical Sciences, Tabriz, Iran.
authors.forename: Abbas Ali H
authors.initials: AA
authors.lastname: Pourfeizi
authors.affiliation: Department of Medical genetics, Tabriz University of Medical Sciences, Tabriz, Iran mahmoud.khaniani@gmail.com.
authors.forename: Mahmoud Shekari
authors.initials: MS
authors.lastname: Khaniani
mesh_terms: D015252:Deoxyribonucleases, Type II Site-Specific / Q000737:chemistry; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006467:Hemophilia A / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007492:Iran / Q000208:ethnology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C041666:endodeoxyribonuclease BclI; D015252:Deoxyribonucleases, Type II Site-Specific; C024400:GTYRAC-specific type II deoxyribonucleases
keywords: Azeri Turkish population; PCR-RFLP; carrier detection; hemophilia A