Literature DB >> 24671757

Detection of hemophilia a carriers in Azeri Turkish population of Iran: usefulness of HindIII and BclI markers.

Tamouchin Moharrami1, Sima Mansoori Derakhshan2, Abbas Ali H Pourfeizi3, Mahmoud Shekari Khaniani4.   

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.
© The Author(s) 2014.

Entities:  

Keywords:  Azeri Turkish population; PCR-RFLP; carrier detection; hemophilia A

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Year:  2014        PMID: 24671757     DOI: 10.1177/1076029614526638

Source DB:  PubMed          Journal:  Clin Appl Thromb Hemost        ISSN: 1076-0296            Impact factor:   2.389


  2 in total

1.  Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A.

Authors:  Sabina Shrestha; Sufang Dong; Zuhua Li; Zhuliang Huang; Fang Zheng
Journal:  Biomed Rep       Date:  2016-07-04

2.  Application of Indirect Linkage Analysis for Carrier Detection of Hemophilia A in Kurdistan Region of Iraq: Usefulness of Intron 18 BclI T>A, Intron 19 HindIII C>T, and IVS7 nt27 G>A Markers.

Authors:  Aveen M Raouf Abdulqader; Shwan Rachid; Ali Ibrahim Mohammed; Sarwar Noori Mahmood
Journal:  Clin Appl Thromb Hemost       Date:  2019 Jan-Dec       Impact factor: 2.389

  2 in total

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