Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A. - PubMed - NCBI

Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A. - PubMed - NCBI

Indian J Hematol Blood Transfus. 2016 Dec;32(4):475-480. Epub 2016 Jun 27.

Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A.

Shekari Khaniani M1, Ebrahimi A1, Daraei S2, Derakhshan SM1.

Author information

Abstract

Hemophilia A (HA) is an inherited X-linked bleeding disorder caused by a variety of mutations that are distributed throughout the large FVIII gene (F8). The most common mutations in studied populations with severe HA are introns 22 and 1 inversions, gross exon deletions and point mutations in exon 14. The aim of this study was to define the frequency of these common mutations in Iranian population of Azeri Turkish in North West of Iran. Fifty patients with severe HA and forty-three female potential carriers were genotyped by inverse shifting polymerase chain reaction (IS-PCR), long-range PCR, multiplex PCR, and sequencing methods for the detection of Intron 22 and 1 inversions, gross exon deletions, and exon 14 point mutations, respectively. F8 intron 22 inversion was detected in 22 (44 %) out of 50 patients. Moreover, we detected one intron 1 inversion (2 %), and one point mutation in exon 14 (2 %). In this population, 52 % of the patients with hemophilia A did not show to carry a mutation in the analyzed regions by three mentioned methods. F8 intron 22 inversion was the major causative mutation in nearly 50 % of severe HA cases in an Azerbaijani Turkish population, which is similar to the incidence of other populations. IS-PCR is a robust, rapid, efficient, and cost-effective method for the genetic analysis of patients with severe HA and for HA carrier detection, especially in developing countries.

KEYWORDS:

FVIII gene; Hemophilia A; IS-PCR; Intron 22 inversion; Long-range PCR

PMID:

 

27812259

 

PMCID:

 

PMC5074980

 [Available on 2017-12-01]

 

DOI:

 

10.1007/s12288-016-0699-2

From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A.  
  Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2016 Dec 32 (4): 475-480.
  Shekari Khaniani Mahmoud, Ebrahimi Abdollah, Daraei Setareh, Derakhshan Sima Mansoo
• Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.  
  Journal of thrombosis and haemostasis : JTH 2016 Dec .
  Loomans J I, van Velzen A S, Eckhardt C L, Peters M, Mäkipernaa A, Holmstrom M, Brons P P, Dors N, Haya S, Voorberg J, van der Bom J G, Fijnvandraat
• Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.  
  Journal of thrombosis and haemostasis : JTH 2016 Oct 14 (10): 1988-1993.
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• The higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B.  
  Haematologica 2016 Oct 101 (10): e429.
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• Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A.  
  Biomedical reports 2016 Aug 5 (2): 228-232.
  Shrestha Sabina, Dong Sufang, Li Zuhua, Huang Zhuliang, Zheng Fa

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