Best answer: How does cystic fibrosis affect chromosome 7?

What gene chromosome is affected by cystic fibrosis?

The seventh pair of chromosomes has a gene called the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Changes (mutations) or errors in this gene are what cause CF.

How does a defective gene on chromosome 7 cause cystic fibrosis?

Cystic fibrosis is an inherited disease caused by mutations (changes) in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents. Cystic fibrosis occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator).

Why is chromosome 7 important?

Studies suggest that some genes on chromosome 7 may play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in a cancerous tumor.

Can you have an XXY chromosome?

Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome. Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child.

What genes are located on chromosome 7?

Also found there is the gene for P-glycoprotein, a protein that enables cancer cells to resist anticancer drugs. Other important genes found on chromosome 7 include those that help control cell division and cell death, genes for taste and smell receptors and those involved in immune responses.

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Is cystic fibrosis a chromosome 7?

CF is caused by pathogenic mutations in a single large gene on chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein [4-9].

Where is the CFTR gene located?

The CFTR gene belongs to a family of genes that regulate the energy transfer that allows a cell to open and close its ion channels. It is located on human chromosome 7 and consists of twenty-seven sequences of DNA that encode 1,480 amino acids.

How does a genetic mutation lead to cystic fibrosis?

Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs. Cystic fibrosis is an example of a recessive disease.