Antenatal Diagnosis of Fetal Abnormalities
- MedicineSpringer London
Epidemiology and routine screening DNA analysis, cytogenetic and biochemical disorders counselling, economics and ethical issues service provision.
Transmission disequilibrium test power and sample size in the presence of locus heterogeneity.
- PsychologyStatistical applications in genetics and molecular biology
The purpose of this research is to provide an analytic solution to the incorporation of locus heterogeneity into power and sample size calculations for the TDT statistic, and to verify the analytic solution with simulations.
Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease
- Medicine, BiologyKlinische Wochenschrift
Screening for the most frequent CFTR gene mutations, which is practicable using recent technology, may provide significant new diagnostic information in patients with CF-like pulmonary phenotypes, especially if they have normal or borderline sweat tests and no pancreatic insufficiency.
Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry
- BiologyHuman Genetics
Interestingly, whereas only 5% of the alleles remain unidentified in the non-French population, the unidentified proportion in the French population is 19%.
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
- Biology, MedicineThe Journal of clinical investigation
It is suggested that either exon 9 is not necessary for CFTR structure and/or function or that only a very small fraction of bronchial epithelial cells need to express normal CFTR mRNA transcripts with exon9 to perform the function of CFTR sufficient to maintain a normal phenotype in vivo.