Feasibility of prenatal diagnosis and carrier detection in South African haemophilia A patients.

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 Haematol

authors

Dangerfield BT,Manga P,Field SP,Hartman E,Jenkins T,Krause A

doi

10.1046/j.1365-2141.1997.892905.x

subject

Has Abstract

pub_date

1997-06-01 00:00:00

pages

558-60

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

97

pub_type

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