Factor VIII gene polymorphisms in the Asian Indian population

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 carr...

Full description

Saved in:
Bibliographic Details
Published in:Haemophilia : the official journal of the World Federation of Hemophilia 2000-11, Vol.6 (6), p.625-630
Main Authors: Chowdhury, M. R., Herrmann, F. H., Schroder, W., Lambert, C. T., Lalloz, M. R. A., Layton, M., Kumbnani, H. K., Kabra, M., Menon, P. S. N., Verma, I. C.
Format: Article
Language:English
Subjects:
Alleles
allelic frequency
Factor VIII - genetics
Female
Gene Frequency
haemophilia A
Hemophilia A - etiology
Hemophilia A - genetics
heterozygosity
Humans
India
polymorphism
Polymorphism, Genetic
short tandem repeats
Tandem Repeat Sequences
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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, HindIII and BclI. Among the intragenic markers studied, the HindIII 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, TaqI had the highest heterozygous frequency (0.75) followed by BglII (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 HindIII (52%) RFLP, and the TaqI (50%) extragenic marker. Application of HindIII, BclI and the intron 22 dinucleotide repeat combined were diagnostic in 87.2% of haemophilia A families studied.
ISSN:1351-8216
1365-2516
DOI:10.1046/j.1365-2516.2000.00442.x