Cystic Fibrosis - Clinical and Genetic Aspects This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts. You may use these slides and their contents for non-commercial educational purposes.
This presentation contains:
Clinical manifestations of CF.
Clinical photographs and X-rays.
Molecular genetic basis of CF, including the structure of the CFTR gene, PCR and sequencing.
Examples of pedigrees and explanation of risk calculation.
CF Case scenario.
Affects 1 in 2,500 babies in the UK (240 babies annually)
Lifelong, life-limiting illness
Affects the lungs, digestive tract and pancreas by clogging them with thick, sticky mucus
Daily physiotherapy, dietary supplements and intensive treatment for chest infections
Cystic Fibrosis (1)
Commonest AR-inherited disease amongst Northern European Caucasians
Incidence in UK Caucasian population 1 in 2,500 carrier risk 1 in 25
Incidence in UK Asian population 1 in 10,000 carrier risk 1 in 50
Cystic Fibrosis (2)
Gland secretions thicker or more viscous than normal
Small bowel: obstruction (meconium ileus in the newborn)
Sally (1999): 7 weeks pregnant, niece recently diagnosed with Cystic Fibrosis Emergency referral by GP (by telephone) Harry 3.9.93 Jane 12.6.96 P Sally 6.4.79 James 9.6.76 adopted Paul 15.2.81 Aaron 3.7.84 Helen 1.5.74 Ruth 18.1.72 Robert 22.8.70 June 5.10.50 George d 42 yrs RTA