
pmid: 18160577
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.
Male, Factor VIII, Polymorphism, Genetic, Genetic Carrier Screening, DNA Mutational Analysis, India, Hemophilia A, Prognosis, Severity of Illness Index, Introns, Linkage Disequilibrium, Pedigree, Haplotypes, Predictive Value of Tests, Humans, Female, Blood Coagulation
Male, Factor VIII, Polymorphism, Genetic, Genetic Carrier Screening, DNA Mutational Analysis, India, Hemophilia A, Prognosis, Severity of Illness Index, Introns, Linkage Disequilibrium, Pedigree, Haplotypes, Predictive Value of Tests, Humans, Female, Blood Coagulation
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