Cystic fibrosis is a genetic disorder where mutated alleles (point or gene mutations) produce a defective...

Cystic fibrosis is a genetic disorder where mutated alleles (point or gene mutations) produce a defective transport protein that results in organs producing a sticky mucus. Discuss how an individual with cystic fibrosis would make the abnormal protein. Your answer should include all the molecules and all the processes involved in going from genotype to phenotype.

Solutions

Expert Solution

Cystic fibrosis is a life-threatening recessively inherited disorder in which a person suffers from single or multiple mutations which prevent him/her to perform normal pulmonary physiological functions and hence, pathological implications related to lungs are often developed.

Molecular biology of cystic fibrosis states that a single or multiple mutation in the cystic fibrosis gene called CFTR take place either randomly or by inheritance from parents. The normal protein generated by this gene is responsible for generation of a trans-membranous channel protein which is involved in not only transport of fluids and materials across the pulmonary lining cells and sweat glands, but also acts as a channelization medium between the cellular environment and the outer environment. The primary function of this channel proetin is the facilitate the efflux of chloride ions from the cells, thus maintaining not only ionic balance but also maintaining tonicity of the cells. In the case of failure of doing so, the cells experience variation from homeostasis and thus pathology due to excessive entrappment of chloride ions. Consequently, the deviation in electrochemical gradeint further disturbs the ionic gradient in the epidermal layers thus causing pathological symptoms.

Thus, failure of development of this channel protein due to mutated CFTR gene leads to development of impairments related to accumulation of excessive cellular waste products such as sweat and mucus. This causes accumulation of thick mucus in the lungs thus preventing gaseous exchange across the pulmonary vascular bed.

In this way, a point mutation/multiple mutations lead to a potentially life-threatening disease in individuals which demands immediate medical attention.

gladiator answered 1 year ago

Next > < Previous

Related Solutions

Cystic fibrosis is genetic disease caused by mutations in the CFTR gene. The consequence of this...

Cystic fibrosis is genetic disease caused by mutations in the CFTR gene. The consequence of this is production of an abnormal transmembrane protein that is responsible for producing sweat, mucus, and digestive fluids. Explain in depth the correlation between the defective gene and the abnormal protein that is produced. Be sure to mention the process involved in protein production, whether or not those process(s) have occurred, and their end products. Provide details in your explanation and support your answer with...

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas,...

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. CF is inherited in an autosomal recessive manner with simple Mendelian inheritance. It is caused by the presence of mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. A normal couple intends to have children but consult a genetic counselor because the man has a sister with CF and the woman has a brother with CF....

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas,...

Among the alleles for the gene responsible for cystic fibrosis that have been identified, one mutant...

Among the alleles for the gene responsible for cystic fibrosis that have been identified, one mutant has been identified in which three amino acids in the middle of the protein sequence are changed. What change in the DNA sequence of the gene could cause such a mutation? (Choose the best answer): Select one: a. a single base pair deletion b. insertion of three adjacent base pairs c. a single base pair substitution d. a single base pair insertion and a single...

Cystic fibrosis (CF) is caused by a genetic mutation resulting in defective proteins in secretory cells,...

Cystic fibrosis (CF) is caused by a genetic mutation resulting in defective proteins in secretory cells, mainly in the epithelial lining of the respiratory tract. The one in every 2,000 Caucasian babies who has the disease is homozygous for the recessive mutant. Although medical treatment is becoming more effective, in the past, most children with CF died before their teens. About 20 Caucasian in 2,000 are carriers of the trait, having one mutant and one normal allele, but they do...

Cystic fibrosis is an autosomal recessive genetic disorder resulting from the absence of a functional transmembrane...

Cystic fibrosis is an autosomal recessive genetic disorder resulting from the absence of a functional transmembrane conductance regulator (CFTR) protein. A woman whose older sister has a son with the disorder is concerned that she will also have a child with cystic fibrosis. The woman’s husband is healthy but he had a paternal uncle who died of cystic fibrosis as a teenager. A. Based on the information given above, draw a pedigree for the couple and the extended families...

Genetic Disorder: Argininosuccinic Aciduria Official full name of the gene responsible for the disorder: Mutations of...

Genetic Disorder: Argininosuccinic Aciduria Official full name of the gene responsible for the disorder: Mutations of the Argininosuccinate lyase (ASL) gene is what leads to Argininosuccinic Aciduria disorder. The mutations occur from a lack of deficiency from enzymes. Official Gene Symbol: ASL GenBank Accession Number: Entrez Gene: 435 Coding sequence: . CDS length: Amino acid sequence: Amino acid length of protein: Function of the normal/non-mutated protein: Mutations implicated in causing the disorder: Impact of mutations on the structure and/or functioning...

1)Cystic fibrosis an autosomal recessive disorder caused by a single gene, affects the lungs, the pancreas,...

1)Cystic fibrosis an autosomal recessive disorder caused by a single gene, affects the lungs, the pancreas, the digestive system, and other organs, resulting in symptoms ranging from breathing difficulties to recurrent infections. Which of the following terms best describes this? A)incomplete dominance B)multiple alleles C)codominance D)epistasis E)pleiotropy 2)What is one function of a signal peptide during peptide translation? A)to terminate translation of the messenger RNA B)to signal the initiation of transcription C)to bind RNA polymerase to DNA and initiate transcription...

Exercise 6.2 worksheet - MONOHYBRID PRACTICE PROBLEMS 1. Cystic fibrosis is an autosomal recessive genetic disorder....

Exercise 6.2 worksheet - MONOHYBRID PRACTICE PROBLEMS 1. Cystic fibrosis is an autosomal recessive genetic disorder. Ron is homozygous dominant (FF) and Nancy is a carrier (Ff ) of cystic fibrosis. Use a Punnett square to predict the genotypic and phenotypic ratios of their offspring who are normal, normal carriers, and affected. Show all your work. Assign symbols for each allele. Parents (P): Male ♂ = Female ♀ = Key Punnett Square: First Generation (F1) Genotypic Ratio: Phenotypic Ratio: 2....

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.

Subjects