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Factor VIII gene polymorphisms in the Asian Indian population.
M R Chowdhury1, F H Herrmann, W Schroder
1Genetics Unit, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India. mrc@ernst.medinst.in
Haemophilia : the Official Journal of the World Federation of Hemophilia
|December 21, 2000
Summary
This study determined heterozygous frequencies of factor VIII gene markers in Asian Indians. Intragenic and extragenic markers were identified as highly informative for haemophilia A carrier screening and prenatal diagnosis.
Area of Science:
- Genetics
- Molecular Biology
- Population Genetics
Background:
- Limited data exists on factor VIII gene marker heterozygosity in Asian Indian populations.
- Accurate carrier screening and prenatal diagnosis for haemophilia A rely on polymorphic markers.
Purpose of the Study:
- To determine heterozygous frequencies of factor VIII gene markers in Asian Indians.
- To identify the most informative markers for haemophilia A carrier screening and prenatal diagnosis in this population.
Main Methods:
- Factor VIII gene polymorphism analysis using polymerase chain reaction (PCR) and Southern blot.
- Screening of 63 Asian Indian haemophiliac families and 150 women from non-haemophilic families.
- Analysis of intragenic (HindIII RFLP, intron 13 STR, intron 22 STR) and extragenic (TaqI, BglII) markers.
Main Results:
- Highest heterozygous frequencies observed for TaqI (0.75) extragenic and HindIII RFLP (0.52) intragenic markers.
- Intron 22 STR (70%), intron 13 STR (52%), HindIII RFLP (52%), and TaqI (50%) were identified as the most diagnostic polymorphisms.
- Intron 22 inversion mutation found in 40% of severe haemophilia A cases.
- Combined use of HindIII, BclI, and intron 22 dinucleotide repeat achieved 87.2% diagnostic capability in haemophilia A families.
Conclusions:
- Established heterozygous frequencies for factor VIII gene markers in Asian Indians.
- Identified specific intragenic and extragenic markers with high diagnostic value for haemophilia A.
- Demonstrated the utility of combined markers for effective carrier screening and prenatal diagnosis in haemophilia A families.