Abstract:
:The feasibility of DNA diagnosis for haemophilia A was tested in South African patients and families by screening for the common inversion mutation in the factor VIII gene and for the intragenic microsatellite markers in introns 13 and 22. The allele frequencies at the two microsatellite loci were significantly different, with informativity being higher in the Negroid (100%) than the Caucasoid group (67%). In severely affected haemophiliacs the inversion was found in 43% (6/14) of Negroids but in only 32% (13/41) of Caucasoids. Presence of a second common unidentified mutation may account for the low frequency in the latter. Haplotype analysis shows a disproportionately high frequency of an (AC)20 intron 13-(AC)26 intron 22 inversion negative Caucasoid haemophilia chromosome, supporting a founder effect.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Dangerfield BT,Manga P,Field SP,Hartman E,Jenkins T,Krause Adoi
10.1046/j.1365-2141.1997.892905.xsubject
Has Abstractpub_date
1997-06-01 00:00:00pages
558-60issue
3eissn
0007-1048issn
1365-2141journal_volume
97pub_type
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