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CYSTIC FIBROSIS (CF)
Symptoms Incorrect folding of the the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein results in its destruction The cell membranes in epithelial cells of lungs, pancreas, colon and urinogenital tract lack chloride ion pores Chloride and sodium imbalance results Excessively salty sweat Mucus secretion becomes thick and viscous. It cannot easily be cleared Chronic lung congestion Pancreatic obstruction Liver damage and diabetes common amongst patients. Median survival 19 years. © 2008 Paul Billiet ODWSODWS
Tests Foetal proteins tested by amniocentesis Sodium ion concentrations in sweat Carriers tested using DNA probes for mutant allele © 2008 Paul Billiet ODWSODWS
Treatment Physiotherapy helps reduce lung congestion Pancreatic extracts can help digestive problems Gene therapy being developed © 2008 Paul Billiet ODWSODWS
Frequency 1 in 2500 births in N Europe 1 person in 25 is heterozygous (carrier) © 2008 Paul Billiet ODWSODWS
Cause A single mutant recessive allele of the CFTR gene 90% Caused by a deletion on the codon of position 508 (amino acid phenylalanine) About 400 mutations of this gene are known The CFTR gene is located on chromosome 7 © 2008 Paul Billiet ODWSODWS
NameNucleotide ChangeExonConsequence -816C->TC to T at-8165' flanking promoter mutation? -471delAGGdeletion of AGG from-471 5' flanking promoter mutation? M1VA to G at1331no translation initiation M1IG to T at1351Met to Ile at codon 1 S4XC to A at1431Ser to Stop at codon 4 174delAdeletion of A between 172-174 1frameshift 175insTinsertion of T after 175 1frameshift 185+1G->TG to T at 185+1intron 1mRNA splicing defect Some CFTR mutations © 2008 Paul Billiet ODWSODWS
Evolution The high frequency of heterozygotes in N. Europe suggests a selective advantage Some geneticists suggest it can protect against diseases like BUT salt loss in sweat by CF carriers did not give them the advantage in hot climates So CF frequency increased in temperate climates not in the tropics © 2008 Paul Billiet ODWSODWS
Cystic Fibrosis Gastrointestinal Tract and the Sweat Ducts Jason A. Ford.
Thick mucus in airways and lungs and breathing problems Chronic lung infections Digestive problems that lead to poor growth Increased salty.
CYSTIC FIBROSIS AND CELL COMMUNICATION. CFTR Cystic Fibrosis Transmembrane Conductance Regulator ( Or CFTR) Is a transport protein for Chloride across.
AP Biology Mutations AP Biology Genes Genes code for proteins the order of A, T, C & G Proteins create traits DNA TACGCACATTTACGTACGCGG mRNA.
Cystic Fibrosis Hereditary recessive trait disease Hereditary recessive trait disease Affects the respiratory, digestive and reproductive systems Affects.
Berkeley Fial Michaela McNiff. Someone gets Cystic Fibrosis when they inherit two mutated genes – one from each parent. The CF gene is on chromosome.
AP Biology Mutations AP Biology When do mutations affect the next generation? Mutations Point mutations single base change base-pair substitution.
Cystic Fibrosis By:YaYPhineas(Edward). What is Cystic Fibrosis? A genetic disorder that affects your digestive and respiratory system You inherit a defective.
Small Scale Mutations & Gene Expression. LARGE MUTATIONS & GENETICS Quick Review.
Click on this link for a demonstration of CFTR and its function. A triumph of molecular genetics in 1989—a research team.
Cystic fibrosis the most common autosomal recessive (AR) disorder among Caucasians, carriers of cystic fibrosis are not affected by the disease carrier.
Lesson Overview Lesson Overview Human Genetic Disorders Lesson Overview 14.2 Human Genetic Disorders.
CCystic Fibrosis is an inherited chronic disease IIt affects the lungs and digestive system SSymptoms IIt clogs the lungs with phlegm and causes.
Science of Life CNU1. Many serious genetic diseases can be traced to ion channel mutations in the gene encoding protein Science of.
Cystic Fibrosis is a genetic disorder that causes problems for the Respiratory and Digestive systems.
Mutations. What is a mutation? Mutation – A change in the DNA that affects inherited genetic information They may be gene mutations which result from.
Section 14-2: Human Genetic Disorders. From Molecule to Phenotype There is a direct link between genotype and phenotype Example: People of African or.
Rate of mutations in the Human Genome A study published in Current Biology in 2009, shows that in total, we all carry new mutations in our DNA.
FROM GENE TO PROTEIN: TRANSLATION & MUTATIONS Chapter 17.
Protein Synthesis Transcription and Translation RNA Structure Like DNA, RNA consists of a long chain of nucleotides 3 Differences between RNA and DNA:
Cystic Fibrosis Lela Biggus pd. 8. What is CF? Cystic Fibrosis (CF) is an inherited disease that effects the lungs and digestive system. A defective gene,
Lesson Overview Lesson Overview Human Genetic Disorders From Molecule to Phenotype How do small changes in DNA molecules affect human traits? Changes in.
Cystic Fibrosis Caused by a recessive allele on chromosome 7 It is inherited in a autosomal recessive pattern. People with cystic fibrosis lack one amino.
AP Biology Chapter 17 Mutations: Point, Frameshift and Examples.
Cystic fibrosis CF. Cysticfibrosis Cystic fibrosis the most common autosomal recessive (AR) disorder among Caucasians chronic and progressive disease.
Putting it all together: Finding the cystic fibrosis gene Cystic fibrosis (CF) is a genetic disorder that is relatively common in some ethnic groups A.
Cause Symptom Treatment Problem Conclusion Questions.
Regents Biology Mutations Changes to DNA.
POSITIONAL CLONING TWO EXAMPLES. Inheritance pattern - dominant autosomal Entirely penetrant and fatal Frequency - about 1/10,000 live births Late onset.
Genetic Diseases. Objectives To recap genetic inheritance To identify four genetic diseases To review key factors to study To propose research.
Mutations Changes to DNA Mutations Changes to DNA are called mutations – change the DNA – changes the mRNA – may change protein – may change.
FROM GENE TO PROTEIN: TRANSLATION & MUTATIONS Chapter
Contents of practice 1.Own DNA isolation 2.PCR - amplifying CFTR and HFE genes 3.RFLP-restriction digestion of HFE gene 4.Gel electrophoresis.
Cystic fibrosis. Cystic fibrosis (CF) is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver,
16.5 Gene therapy 10.1 Coordination.. Learning outcomes By the end of this lesson I will know – The use of gene therapy is to supplement defective genes.
Human Genetic Disorders. Genetic Disorders Major types of genetic disorders: Autosomal Single genes Multiple genes Sex-linked Chromosome abnormalities.
O Single gene Mendelian disorder o Gene codes for the Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR) Daniel R. Taub and Joshua Page.
Mutations Changes to DNA. What are Mutations? Any change to the DNA Mutations in body (somatic) cells can cause cell death or cancer Those in germ (sex)
Human Genetic Disorders. Genetic Disorder An abnormal condition that a person inherits through genes or chromosomes. Caused by mutations, or changes in.
Human Genetic Mutations. 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations.
Objectives Review the causes of cystic fibrosis (CF) Describe the symptoms and laboratory findings in CF Review current and emerging CF treatments Review.
Cystic fibrosis. Etiology and epidemiology Cystic fibrosis (CF) is an autosomal recessive disorder that is the most common life limiting genetic disease.
A Study of Cystic Fibrosis Using Web-Based Tools Anuradha Datta Murphy Graduate Student, Dept. of Molecular and Integrative Physiology, University of Illinois.
MAJOR EVENTS AND EVOLUTION IN CYSTIC FIBROSIS PATIENTS Author: Alexandra Martin Coordinator: Dr. Reka Borka Balas University of Medicine and Pharmacy Târgu-
Phenylketonuria Lecture 2. Norwegian doctor Asbjørn Følling discovered PKU in Only 1 in about 15,000 babies are born with PKU, which means PKU is.
Cystic Fibrosis and The Effects on the Pancreas By Jon Obert.
TOPIC 4: GENETICS. 4.1: Chromosomes, genes, alleles and mutations ★ State that eukaryote chromosomes are made of DNA and proteins. ★ Define gene, allele.
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