Molecular genetic studies in monogenic and polygenic human diseases

Emoke Endreffy, A. László, Á Szabó, F. Román, K. Kürti, H. Kálmán, I. Raskó

Research output: Contribution to journalArticle


The main goal of this study was to determine and characterise the types of mutations in two monogenic human disorders: cystic fibrosis (CF) and Duchenne/Becker muscular dystrophy (DMD, BMD) and the susceptibility allele frequency in a polygenic disease: type I insulin-dependent diabetes mellitus (IDDM). After analysing 220 chromosomes for nutations in the CF (Cystic Fibrosis Transmembrane Conductance Regulator = = CFTR) gene, ΔF508 nutation was most abundant (41%) and out of the non-ΔF508 CF mutations 5% was identified as G542X, G551D, R553X, N1303K and W1282X. The CF haplotype analysis by using linked markers to the CFTR gene revealed that the CF "B" haplotype occurred in 66.7% of patients, and this haplotype was 57.2% in patients carrying the ΔF508 nutation. Prenatal genetic diagnosis for CF was performed in 10 fetuses: 3 were affected, 6 were carriers, and 1 without any CF nutation. Fifty % of 66 patients with DMB/BMD muscular dystrophy had one or more exon deletions in the dystrophin gene. Eighty-five % of the deletions occurred at the 3′ and 15% at the 5′ end of the gene. Out of the three prenatal diagnosis in one case DMD was substantiated. Thirty-six % of 50 patients with IDDM possessed four, 44% three and 20% two susceptibility markers in the HLA-DQA1, -DQB1 region. The onset of the disease correlated with the number of susceptibility alleles.

Original languageEnglish
Pages (from-to)121-128
Number of pages8
JournalActa biologica Hungarica
Issue number1
Publication statusPublished - Dec 1 1997


  • Carrier detection
  • Molecular genetic diagnosis
  • Prenatal diagnosis
  • Prognose

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Environmental Science(all)
  • Neurology

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  • Cite this

    Endreffy, E., László, A., Szabó, Á., Román, F., Kürti, K., Kálmán, H., & Raskó, I. (1997). Molecular genetic studies in monogenic and polygenic human diseases. Acta biologica Hungarica, 48(1), 121-128.