Mikroszatellita elemzés klinikai alkalmazása a cisztikus fibrózis praenatalis diagnosztikájában.

Translated title of the contribution: Clinical application of analysis of microsatellite markers in the prenatal diagnosis of cystic fibrosis

A. Ferenczi, V. Homolya, G. Szakács, K. Németh, E. Kiss, A. Váradi, G. Fekete

Research output: Contribution to journalArticle

Abstract

Cystic Fibrosis (CF) is an autosomal recessive hereditary disease, caused by the defect of a membrane transport protein. The defect is due to the mutation of the gene coding this protein. To date, these mutations have been analysed by direct mutational analyses in prenatal diagnosis. During gene sequencing, intragenic polymorphic markers (microsatellites) were identified, enabling the indirect analysis of the mutant allele. The markers characterize the given allele, so that the inheritance according to the Mendelian rules could be followed. We introduced a DNA-diagnostic method based on the amplification of three intragenic microsatellites. This new and efficient prenatal diagnostic tool would provide more reliable test results for previously screened CF families, in which direct mutation analysis was not informative.

Original languageHungarian
Pages (from-to)209-213
Number of pages5
JournalOrvosi hetilap
Volume138
Issue number4
Publication statusPublished - Jan 26 1997

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ASJC Scopus subject areas

  • Medicine(all)

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