Factor VIII gene polymorphisms in the Asian Indian population
| Autor: | Madhumita Roy Chowdhury, H. K. Kumbnani, P. S. N. Menon, Ishwar C. Verma, Mark Layton, W. Schroder, C. T. Lambert, M. R. A. Lalloz, Madhulika Kabra, F. H. Herrmann |
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| Rok vydání: | 2000 |
| Předmět: |
Genetics
education.field_of_study TaqI Population Hematology General Medicine Biology HindIII Molecular biology Loss of heterozygosity chemistry.chemical_compound chemistry biology.protein Microsatellite Gene polymorphism Restriction fragment length polymorphism education Allele frequency Genetics (clinical) |
| Zdroj: | Haemophilia. 6:625-630 |
| ISSN: | 1351-8216 |
| DOI: | 10.1046/j.1365-2516.2000.00442.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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