Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.
Two novel restriction fragment length polymorphisms (RFLPs) around the DXS115 (767) locus, detectable with the restriction enzymes MspI, are described. Since DXS115 is closely linked to the factor VIII gene (F8C), the MspI RFLP was employed in haemophilia A carrier detection. The utility of these RFLPs lies in the increased applicability and accuracy of diagnoses carried out in cases where available intragenic markers are uninformative.
Jedlicka
P
P
Haematology Department, King's College Hospital, Denmark Hill, London, UK.
Greer
S
S
Millar
D S
DS
Grundy
C B
CB
Jenkins
E
E
Mitchell
M
M
Mibashan
R S
RS
Kakkar
V V
VV
Cooper
D N
DN
D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers; D005820:Genetic Testing; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
D005819:Genetic Markers; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific