Indirekt módszerek a haemophilia A genetikai diagnosztikájában.

Translated title of the contribution: Indirect methods in the genetic diagnosis of hemophilia A

Research output: Contribution to journalArticle

Abstract

In haemophilia A (HA), besides the direct detection of the most common mutation of the factor VIII gene (the gene inversion), it was necessary to establish indirect methods which are suitable to reveal the pattern of inheritance of the genes examined, regardless of the mutations they carry. This task can be achieved by the analysis of DNA polymorphisms located within and in the near proximity of the factor VIII gene. For diagnostic purposes we used an RFLP and two microsatellite polymorphisms. The aim of our program is to provide carrier and also prenatal diagnostics for affected families. So far we completed the analyses of 15 HA patients and 68 of their family members, and we gave prenatal diagnoses in 3 cases. According to the information content of the polymorphisms used, we expect to be able to provide DNA diagnoses to 95% of the Hungarian HA families requesting the test.

Original languageHungarian
Pages (from-to)487-491
Number of pages5
JournalOrvosi Hetilap
Volume139
Issue number9
Publication statusPublished - Mar 1 1998

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Hemophilia A
Factor VIII
Genes
Inheritance Patterns
Mutation
DNA
Prenatal Diagnosis
Restriction Fragment Length Polymorphisms
Microsatellite Repeats

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Indirekt módszerek a haemophilia A genetikai diagnosztikájában. / Klein, I.; Tordai, A.; Nemes, L.; Sas, G.; Váradi, A.

In: Orvosi Hetilap, Vol. 139, No. 9, 01.03.1998, p. 487-491.

Research output: Contribution to journalArticle

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