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Cystic fibrosis is a genetic disorder caused by a recessive allele affecting the CFTR gene, leading to thick mucus production that causes respiratory issues and digestive problems. The faulty CFTR protein fails to transport chloride ions, preventing proper osmosis and resulting in thick, sticky mucus. This condition significantly increases susceptibility to lung infections and affects reproductive health, with around 90% of affected men being sterile.

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8 views

c.f

Cystic fibrosis is a genetic disorder caused by a recessive allele affecting the CFTR gene, leading to thick mucus production that causes respiratory issues and digestive problems. The faulty CFTR protein fails to transport chloride ions, preventing proper osmosis and resulting in thick, sticky mucus. This condition significantly increases susceptibility to lung infections and affects reproductive health, with around 90% of affected men being sterile.

Uploaded by

Maria adeel
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as DOCX, PDF, TXT or read online on Scribd
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Advantages of genetic screening

Cystic fibrosis

• Genetic disorder in which abnormally thick mucus is produced in the lungs and other parts of the body.

• A person with cystic fibrosis is very prone to bacterial infections in the lungs because it is difficult for the
mucus to be removed, allowing bacteria to breed in it.

• Difficulty in breathing / reduced gas exchange.

• The thick mucus adversely affects many other parts of the body. The pancreatic duct may become blocked, and
people with cystic fibrosis often take pancreatic enzymes by mouth to help with digestion.

• Around 90% of men with cystic fibrosis are sterile, because thick secretions block ducts in the reproductive
system.

What happens in normal person?

 Normally, the cells lining the airways and in the lungs pump out chloride ions (Cl−) through the carrier
proteins in the cell surface membrane formed by CFTR. (CFTR is the gene that codes for transport protein
allowing chloride ions to pass through).
 This results in a relatively high concentration of chloride ions outside the cells.
 This reduces the water potential below that of the cytoplasm of the cells.
 So water moves out of the cells by osmosis, down the water potential gradient.
 It mixes with the mucus there, making it thin enough for easy removal by the sweeping movements of cilia.

How disease is caused?


• Cystic fibrosis is caused by a recessive allele of the gene that codes for a transporter protein called CFTR.
• The mutation in the gene has simply replaced one base with another. This has created a ‘stop’ codon in the
middle of the gene.
• The gene is transcribed (that is, mRNA is made from it) in the normal way, but translation on the ribosomes
stops when this codon is reached. This means that only a short length of the CFTR protein is made.
• This protein sits in the cell surface membranes of cells in the alveoli (and also elsewhere in the body) and
chloride ions to pass out of the cells.
• The recessive allele codes for a faulty version of this protein that does not act properly as a chloride ion
transporter.

What happens in diseased person?


The transporter protein is unable to pass chloride ions out of the cells.
Water potential doesn’t lower outside cells and water is unable to move out of the cells by osmosis and the mucus
remains thick and sticky.

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