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How do the two alleles of the CFTR gene in a lung cell differ? a. They were inherited from different parents. b. One is on chromosome 7 and one is on chromosome 3. c. Only one is expressed. d. All of the above. e. There is no difference because they are both the same gene.
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How do the two alleles of the CFTR gene in a lung call differ. They were inherited from different parents. ... There are 46 chromosomes in each liver cell. There are two alleles of each gene in each liver cell. Consider a gamete: how many chromosomes are present? How many alleles of each gene are present?
CFTR is an extensively studied gene and multiple sequence variants have been identified, many of which still need to be defined as neutral or disease causing. Complex alleles are defined when at least two variants are identified on the same allele. Each pathogenic variant can affect distinct steps of the CFTR biogenesis. As CFTR modulators are being developed to alleviate specific defects, pathogenic variants need to be characterized to propose adequate treatments. Conversely, cis-variants can affect treatment response when defects are additive or if they alter the binding or efficacy of the modulator. Hence, complex alleles increase the complexity of CFTR variant classification and need to be assigned as neutral, disease causing or modulating treatment efficacy. This review was based on a symposium session presented at the 16th ECFS Basic Science Conference, Dubrovnik, Croatia, 27 to 30 March, 2019.
Cystic fibrosis (CF, MIM# 219700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. To date, more than 2000 variants have been identified in patients with CF and milder monosymptomatic or oligosymptomatic diseases called CFTR-related disorders (CFTR-RD). They have been categorized in six classes depending on their effect on protein production, maturation, folding, activity, conductance, stability at the cell surface [
The use of next generation sequencing (NGS) techniques enables to sequence the CFTR locus in CF patients, leading to a better characterization of the patient's genotype and the identification of novel sequence variants. The impact of these variants will need to be evaluated using in vitro assays and novel cellular models both patient-derived or generated using the CRISPR/Cas9 technology. The identification of additional variants in cis with disease-causing variants could enable to predict response to current therapies and propose combinatory treatments targeting distinct defects.
The CFTR gene encodes a protein in cell membranes in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content. Research on the CFTR mutation has shed light on the ways in which this gene is vital to normal human development.
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui’s research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism.
Approximately seventy percent of cystic fibrosis cases are caused by this mutation, the deletion of the amino acid at position 508 in the CFTR gene. This mutation, termed ΔF508, causes the CFTR protein to fold improperly during protein synthesis; the protein breaks down shortly after it is made, and it never reaches the cell membrane.
When chloride ions cannot leave the cell properly through the CFTR protein, water is retained in the cell due to osmosis and these fluids are thicker than they should be. Thus, the proper regulation of the chloride channel enables a cell to maintain the correct balance of electrolytes on both sides of the cell membrane.
Individuals who have two mutated CFTR genes cannot regulate their electrolytes properly and will develop CF. As carriers of the mutated CFTR gene appear to be healthy, the mutated CFTR gene may remain undetected without prenatal or genetic screening.
Cystic fibrosis is an autosomal recessive disease, meaning it is inherited when a child receives one mutated copy of the CFTR gene from each parent. If individuals have only one defective copy of the gene, they still expresses enough normal copies of the gene to be healthy. Individuals who have two mutated CFTR genes cannot regulate their ...