In the present paper, we applied surface plasmon resonance (SPR) and biosensor technologies for biospecific interaction analysis (BIA) to detect DF508 mutation (F508del) of the cystic fibrosis transmembrane regulator (CFTR) gene in both homozygous as well as heterozygous human subjects. The proposed
The cystic fibrosis ΔF508 gene mutation and cancer
✍ Scribed by Rose Ann Padua; Neil Warren; David Grimshaw; Melissa Smith; Christopher Lewis; Jack Whittaker; Peter Laidler; Patricia Wright; Anthony Douglas-Jones; Pierre Fenaux; Anup Sharma; Kieran Horgan; Robert West
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 95 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Following the observation that relatives of cystic fibrosis (CF) patients have an increased mortality due to leukaemia, a study was initiated to determine whether leukaemia patients had an increased prevalence of the DF508 CF mutation. No increase in carriers were found among leukaemias; however the carrier frequency of the DF508 mutation appeared to be reduced in patients with malignant melanoma analysed as a control group compared to the normal population. This paper extends our previous study and investigates several other common human tumours, including those of the colon, breast, and lymphoma tissue. Fewer than expected carriers remained among the melanoma group from South Wales. There were fewer than expected carriers among patients with colon cancer compared to the normal population. The prevalence of the DF508 mutation was normal in lymphomas and leukaemias. Hum
📜 SIMILAR VOLUMES
Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. The disease can be caused by one of the more than 900 different mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. However, the deletion of the phe508-codon is the most pre
## Background: Inflammatory bowel disease (ibd) is an epithelial barrier disease that is thought to result from a dysregulated interaction with bacteria in the intestine of genetically predisposed individuals. the cystic fibrosis transmembrane conductance regulator (cftr), which is mutated in the a
Cystic fibrosis (CF) is an autosomal recessive disorder which is considered to be the most frequent genetic disorder in the Caucasian population. In a large number of populations tested it is found in an average frequency of 1 CF chromosome per 25 individuals, resulting in a patient frequency of 1:2
## Abstract In the present study we investigated whether single‐strand conformational polymorphism (SSCP) and polyacrylamide gel electrophoresis (PAGE) could be used for the identification of the CFTR ΔF508 gene mutation, which is commonest in the Greek population. Using DNA from patients carrying