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Factor VIII gene polymorphisms in the Asian Indian population
Author(s) -
Chowdhury M. R.,
Herrmann F. H.,
Schroder W.,
Lambert C. T.,
Lalloz M. R. A.,
Layton M.,
Kumbnani H. K.,
Kabra M.,
Me P. S. N.,
Verma I. C.
Publication year - 2000
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1046/j.1365-2516.2000.00442.x
Subject(s) - hindiii , taqi , restriction fragment length polymorphism , genetics , intron , microbiology and biotechnology , biology , population , haemophilia a , loss of heterozygosity , genetic marker , genotype , gene , restriction enzyme , allele , medicine , haemophilia , environmental health
Little is known about the heterozygous frequency of factor VIII gene markers in the Asian Indian population. The objective of this study was to establish the heterozygous frequency of polymorphic markers within and flanking the factor VIII gene in Indians and identify those most informative for carrier screening and prenatal diagnosis. Factor VIII gene polymorphism analysis at intragenic and extragenic sites was carried out by the polymerase chain reaction (PCR) method and Southern blot procedure. Sixty‐three Asian Indian haemophiliacs and their families were screened. A control group of 150 women from nonhaemophilic families were screened for two markers, Hin dIII and Bcl I. Among the intragenic markers studied, the Hin dIII restriction fragment length polymorphism (RFLP) showed the highest heterozygous frequency (0.52) followed by the intron 13 (0.47) and intron 22 (0.44) short tandem repeats (STRs). Among extragenic markers, Taq I had the highest heterozygous frequency (0.75) followed by Bgl II (0.54). The intron 22 inversion mutation was observed in eight (40%) of 20 severe cases. In the population studied the most diagnostic polymorphisms were the intragenic markers, intron 22 (70%) STR followed by the intron 13 (52%) STR and Hin dIII (52%) RFLP, and the Taq I (50%) extragenic marker. Application of Hin dIII, Bcl I and the intron 22 dinucleotide repeat combined were diagnostic in 87.2% of haemophilia A families studied.