[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis].
Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.
Németi
M
M
Debreceni Orvostudományi Egyetem, Szülészeti és Nögyógyászati Klinika.
Bolodár
A
A
Török
O
O
Papp
Z
Z
D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis / Q000235:genetics*; D005169:Factor VIII; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014960:X Chromosome
D005169:Factor VIII; D004247:DNA
Lehetöségek a haemophilia-A praenatalis diagnosztikájára DNS analízis alapján.