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Clinical and Applied Thrombosis/Hemostasis
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Factor VIII Gene Haplotypes and Linkage Disequilibrium for the Indirect Genetic Analysis of Hemophilia A in India

Monica Singh, PhD

Molecular Genetics Laboratory, Department of Human Biology, Punjabi University, Patiala, India, singh_m12@rediffmail .com

Puneetpal Singh, PhD

Molecular Genetics Laboratory, Department of Human Biology, Punjabi University, Patiala, India

Genomic consequences of factor VIII gene haplotypes for the indirect genetic analysis of haemophilia A has not been done in India hitherto. Consequently, BclI/intron18, HindIII/intron 19, and XbaI/intron 22 restriction sites were investigated in 159 individuals from 42 families with hemophilia A. The frequencies of haplotype II, IV, VI, that is, BclI (+)-HindIII (–)- XbaI (+), BclI (+)HindIII (+)-XbaI (–), and BclI (–)-HindIII (–)-XbaI (+) were 0.312, 0.198, and 0.164 respectively. The high heterogeneity of haplotype II highlighted its potential for indirect genetic diagnosis of factor VIII. Analysis revealed strong but incomplete linkage disequilibrium (D' = 0.76, 0.68, and 0.51) between BclI/HindIII, HindIII/XbaI, and BclI/XbaI, respectively. The overall cumulative polymorphism information content (PIC) of these three markers increased from 0.36 to 0.80. Escalation of PIC up to 80% in the present study suggests that haplotyping of factor VIII gene determines better prognosis in the direction of indirect genetic analysis of hemophilia A.

Key Words: hemophilia A • factor VIII gene polymorphism • indirect genetic analysis • haplotype analysis • linkage disequilibrium

This version was published on June 1, 2009

Clinical and Applied Thrombosis/Hemostasis, Vol. 15, No. 3, 334-339 (2009)
DOI: 10.1177/1076029607308872
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