What is cystic fibrosis? How does cystic fibrosis work to enhance survival for heterozygous individuals?

Expert Solution

ANSWER :

▪︎CYSTIC FIBROSIS :

Cystic fibrosis is a progressive , autosomal recessive , inherited genetic disorder caused due to mutation in the CFTR (Cystic fibrosis transmembrane conductance regulator) gene.

▪︎To manifest cystic fibrosis 2 copies of mutated genes should be present. People with single copy of mutated gene are carriers.

▪︎CFTR gene mutation ------> inhibits movement of salt (chloride) to the cell surface -------> prevents water from getting moved to the cell surface -----> thick and sticky mucous formation in various organs of respiratory(lungs), reproductive and digestivel(pancreas) systems.

Lungs ----> blocks the airways ----> lung infections, respiratory failure etc
Pancreas -----> decrease in digestive enzymes secretion ---> malabsorption---> malnutrition and growth retardation.

▪︎Heterozygous individuals are carriers of cystic fibrosis. Lifespan of carriers and normal population is same but the carriers have increased risk of getting cystic fibrosis related conditions like lung infections , bronchiectasis etc

▪︎Heterozygous cystic fibrosis people have certain advantages :

They are resistant or protective to diseases like cholera, typhoid , tuberculosis and diarrhea.

Nightingale answered 1 year ago

Cystic fibrosis is a recessive disorder. If a child comes from two heterozygous parents, what is...

Cystic fibrosis is a recessive disorder. If a child comes from two heterozygous parents, what is the chance that the child will have it too? 25% 75% 50% 100%

A mutation that causes cystic fibrosis has quite a high rate of people that are heterozygous...

A mutation that causes cystic fibrosis has quite a high rate of people that are heterozygous and do not show symptoms of the disease. What does this tell you about the function of the cystic fibrosis gene? a. it alters the viscosity of mucus b. the mutation is in a gene that must be 'downstream' or farther down in a metabolic pathway than others c. to have the disease phenotype, individuals only need one copy of the mutated allele d....

Description of cystic fibrosis? What has changed in cystic fibrosis to allow it to cause a...

Description of cystic fibrosis? What has changed in cystic fibrosis to allow it to cause a genetic disorder? Explain how this differs from the gene's normal function.Is it possible for parents to not have the disorder, but pass it on to their children? What kind of dominance pattern does cystic fibrosis show? What problem(s) is/are caused to a person who inherits the cystic fibrosis gene? Is this typically inherited from the mother or the father? Describe an experiment that you...

what is the etiology and pathogenesis of cystic fibrosis

Describe the pathophysiology of cystic fibrosis and how it relates to weight loss and fatigue as...

Describe the pathophysiology of cystic fibrosis and how it relates to weight loss and fatigue as you would to educate your patient, including common signs and symptoms or findings. List any additional teaching that is pertinent to the condition, including possible treatment options.

What is cystic fibrosis? Describe the major genetic cause and the mechanism that leads to the...

What is cystic fibrosis? Describe the major genetic cause and the mechanism that leads to the symptoms of the disease.

What is the difference between heterozygous and homozygous individuals?

Part A What is the difference between heterozygous and homozygous individuals? Homozygotes have one chromosome while heterozygotes have two similar chromosomes. The homozygote will express the dominant trait and the heterozygote will express the recessive trait. All of the gametes from a homozygote carry the same version of the gene while those of a heterozygote will differ. Heterozygotes carry two copies of a gene while homozygotes only carry one. Part B When constructing a Punnett square, the symbols on the...

how wil you write your nursing notes witt cystic fibrosis patient?

What are the levels of protein structure for the Cystic Fibrosis Transmembrane conductance regulator? Including primary,...

What are the levels of protein structure for the Cystic Fibrosis Transmembrane conductance regulator? Including primary, secondary, tertiary, and quaternary.

if a child has cystic fibrosis then what do we know about the parents, did Did...

if a child has cystic fibrosis then what do we know about the parents, did Did they each had to have at least one recessive allele? Did both parents and have a dominant alone? Did at least one parent have homozygous dominant? Or did both parents have to be homozygous recessive?

Question