title: Molecular genetic studies in monogenic and polygenic human diseases.
abstract: 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 mutations in the CF (Cystic Fibrosis Transmembrane Conductance Regulator = CFTR) gene, delta F508 mutation was most abundant (41%) and out of the non-delta F508 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 delta F508 mutation. Prenatal genetic diagnosis for CF was performed in 10 fetuses: 3 were affected, 6 were carriers, and 1 without any CF mutation. 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.
authors.affiliation: Paediatric Department, Albert Szent-Györgyi Medical University, Szeged, Hungary.
authors.forename: E
authors.initials: E
authors.lastname: Endreffy
authors.lastname: László
authors.forename: A
authors.initials: A
authors.lastname: Szabó
authors.forename: F
authors.initials: F
authors.lastname: Román
authors.forename: K
authors.initials: K
authors.lastname: Kürti
authors.forename: M
authors.initials: M
authors.lastname: Kálmán
authors.forename: I
authors.initials: I
authors.lastname: Raskó
mesh_terms: D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005819:Genetic Markers; D006683:HLA-DQ Antigens / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006801:Humans; D008297:Male; D008967:Molecular Biology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C505032:CFTR protein, human; D016189:Dystrophin; D005819:Genetic Markers; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D019005:Cystic Fibrosis Transmembrane Conductance Regulator