St 14 (DX S52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of haemophilia A families.
The frequency of different polymorphic variants of the multi-allelic locus DXS52 (St14) of the human X chromosome, adjacent to the factor VIII gene, was evaluated by means of PCR for the heterogeneous population of India. It was shown that the heterozygosity index of this polymorphism in the studied population of 282 unrelated subjects was much higher (88%) than reported elsewhere. Two new alleles (1,750 bp and 1,420 bp) were detected during this study. Out of 65 families studied using this polymorphism for carrier detection and antenatal diagnosis, 58 were informative with this polymorphism. thus indicating that this polymorphism can serve as an important marker in the carrier detection and prenatal diagnosis of haemophilia A families.
Shetty
S
S
Institute of Immunohaematology (ICMR), KEM Hospital, Parel, Mumbai, India.
Ghosh
K
K
Mohanty
D
D
D000483:Alleles; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics*; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis
D005169:Factor VIII