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  • 1
    Electronic Resource
    Electronic Resource
    A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals (2000)
    Springer
    Human genetics 〈Berlin〉 106 (2000), S. 172-178 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations (threshold) cannot be the cause of that disease. This principle was applied to the analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in order to decide whether they are the cause of cystic fibrosis. A total of 191 DNA samples from random individuals from Italy, France, and Spain were investigated by DGGE (denaturing gradient gel electrophoresis) analysis of all the coding and proximal non-coding regions of the gene. The mutations detected by DGGE were identified by sequencing. The sample size was sufficient to select essentially all mutations with a frequency of at least 0.01. A total of 46 mutations was detected, 20 of which were missense mutations. Four new mutations were identified: 1341+28 C/T, 2082 C/T, L1096R, and I1131V. Thirteen mutations (125 G/C, 875+40 A/G, TTGAn, IVS8–6 5T, IVS8–6 9T, 1525–61 A/G, M470V, 2694 T/G, 3061–65 C/A, 4002 A/G, 4521 G/A, IVS8 TG10, IVS8 TG12) were classified as non-CF-causing alleles on the basis of their frequency. The remaining mutations have a cumulative frequency far exceeding q; therefore, most of them cannot be CF-causing mutations. This is the first random survey capable of detecting all the polymorphisms of the coding sequence of a gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900228
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  • 2
    Electronic Resource
    Electronic Resource
    Complex allele [-102T〉A+S549R(T〉G)] is associated with milder forms of cystic fibrosis than allele S549R(T〉G) alone (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 145-150 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We recently reported a novel complex allele in the cystic fibrosis transmembrane regulator ( CFTR) gene, combining a sequence change in the minimal CFTR promoter (-102T〉A) and a missense mutation in exon 11 [S549R(T〉G)]. Here we compare the main clinical features of six patients with cystic fibrosis (CF) carrying the complex allele [-102T〉A+S549R(T〉G)] with those of 16 CF patients homozygous for mutation S549R(T〉G) alone. Age at diagnosis was higher, and current age was significantly higher (P=0.0032) in the group with the complex allele, compared with the S549R/S549R group. Although the proportion of patients with lung colonization was similar in both groups, the age at onset was significantly higher in the group with the complex allele (P=0.0022). Patients with the complex allele also had significantly lower sweat test chloride values (P=0.0028) and better overall clinical scores (P=0.004). None of the 22 patients reported in this study had meconium ileus. All 16 patients homozygous for S549R(T〉G), however, were pancreatic insufficient, as compared with 50% of patients carrying the complex allele (P=0.013). Moreover, the unique patient homozygous for [-102T〉A+S549R(T〉G)] presented with a mild disease at 34 years of age. These observations strongly suggest that the sequence change (-102T〉A) in the CFTR minimal promoter could attenuate the severe clinical phenotype associated with mutation S549R(T〉G).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900066
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    Paper (German National Licenses)
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