New FACTOR IX linked marker alleles in African Haemophilia B patients.
Three markers, one restriction length polymorphism (RFLP) (MseI) and two microsatellite markers (Intron 1 and 3'UTR), linked to the FACTOR IX gene, were assessed for the purpose of genetic testing for Haemophilia B families in South Africa. This was carried out using seven Haemophilia B families and fifty random control samples. We observed five new alleles for the Intron 1 marker within the black control and patient sample groups, and informativity in 89% (8/9) of all carrier females for at least one of the three markers observed. These markers are useful for carrier detection and prenatal diagnosis of Haemophilia B in the great majority of South African black and white families.
Mitchell
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Division of Human Genetics, School of Pathology, the National Health Laboratory Service, Cnr. of DeKorte and Hospital Street, Braamfontein, Johannesburg 2000, South Africa. cathrinemitchell@gmail.com
Mitchell
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Krause
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D000483:Alleles; D004247:DNA / Q000032:analysis*; D005164:Factor IX / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D002836:Hemophilia B / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013019:South Africa / Q000208:ethnology
D005164:Factor IX; D004247:DNA