Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection

American Journal of Hematology
S Babak AzimifarSirous Zeinali

Abstract

Hemophilia A is an X-linked recessive bleeding disorder caused by a quantitative or qualitative deficiency of blood coagulation factor VIII (FVIII). ARMS (amplification refractory mutation system) primers were designed to determine allele frequencies of three FVIII gene linked markers, IVS7 nt 27 G/A SNP, BclI/intron 18, and HindIII/intron 19 among 85 normal Iranian women from unrelated families. Then same method was applied to perform carrier detection for hemophilia A families. The allele frequencies of IVS7 nt 27 "G"/"A" allele, BclI "T"/"A" allele, and HindIII "C"/"T" allele among normal women were 0.88/0.12, 0.52/0.48, and 0.48/0.52, respectively. The three polymorphisms were found to be in strong linkage disequilibrium, which decreased the overall heterozygosity to 51%. Twenty-one women from 15 unrelated hemophilia A families were referred to us for hemophilia A carrier detection. Taking advantage of these three biallelic polymorphisms in conjunction with multiallelic St14 VNTR (locus DXS52), IVS13 (CA)n STR, and IVS22 (CA)n STR, carrier status was determined in 16 women (16/21 or 76% of the at-risk women) from 11 families (11/15 or 73% of the families). The used ARMS methods are rapid and can easily be applied in conjunc...Continue Reading

References

Sep 1, 1990·British Journal of Haematology·J B GrahamS T Lord
Mar 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S Kogan, J Gitschier
Nov 22, 1984·Nature·J GitschierR M Lawn
Jan 6, 1994·The New England Journal of Medicine·L W Hoyer
Feb 24, 1999·Haemophilia : the Official Journal of the World Federation of Hemophilia·A Howarth, D J Bowen
Feb 13, 2001·British Journal of Haematology·S R LinM C Shen
Jul 3, 2004·Haemophilia : the Official Journal of the World Federation of Hemophilia·G Rastegar LariF Ala
Jul 14, 2005·Haemophilia : the Official Journal of the World Federation of Hemophilia·S KeeneyUNKNOWN UK Haemophilia Center Doctors' Organization Haemophilia Genetics Laboratory Network

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Citations

Nov 2, 2007·Haemophilia : the Official Journal of the World Federation of Hemophilia·B RabbaniS Zeinali
Jun 13, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·I R HusseinM El-Ekiabi
Nov 29, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·S RavanbodF Ala
Mar 29, 2014·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Tamouchin MoharramiMahmoud Shekari Khaniani
Dec 28, 2007·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Monica Singh, Puneetpal Singh
Jun 11, 2019·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Aveen M Raouf AbdulqaderSarwar Noori Mahmood

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