Lehetöségek a haemophilia-A praenatalis diagnosztikájára DNS analízis alapján.

Translated title of the contribution: Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis

M. Németi, A. Bolodár, O. Török, Z. Papp

Research output: Contribution to journalArticle

Abstract

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.

Translated title of the contributionPossibilities of prenatal diagnosis in hemophilia A based on DNA analysis
Original languageHungarian
Pages (from-to)1635-1638
Number of pages4
JournalOrvosi hetilap
Volume131
Issue number30
Publication statusPublished - Jul 29 1990

ASJC Scopus subject areas

  • Medicine(all)

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