What is the location of the CFTR gene?

Located on the long (q) arm of chromosome 7 at position 31.2, the CFTR gene is comprised of 27 exons that encode its genetic sequence (1). An exon is a portion of a DNA that contains the code for a protein structure.

How many KB is CFTR gene?

The CFTR gene itself spans only 189.36 kb; however, the immediate promoter can be extended as far as 20.9 kb upstream, where the CTCF-dependent insulator element is located—the expanded promoter region includes the regulatory binding element required for proper gene expression (Blackledge et al. 2007).

How many exons has the CFTR gene?

Residing on chromosome 7q31. 3 (7) and consisting of 27 exons, the human CFTR gene encodes a 6,129-bp transcript that directs the synthesis of a 1,480-aa protein (2, 3) shown to function as a chloride channel (8–10).

Who identified the CFTR gene?

The breakthrough of the ’80s The CFTR gene itself was discovered in 1989 by a team of researchers led by Dr. Lap-Chee Tsui in Canada. It was, in fact, the first disease-causing gene to be identified in any disease, so this was one of the most significant breakthroughs in human genetics.

Is CFTR a gene or protein?

The CF gene spans about 230 kb of genomic DNA and encodes a protein of 1480 amino acids named the cystic fibrosis transmembrane conductance regulator (CFTR).

What causes the CFTR mutation?

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). When you are diagnosed with CF, it means you have two defective CFTR genes. You inherited one copy of the CFTR gene from your mother and one from your father.

Does everyone have a CFTR gene?

Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Does everyone have the CFTR gene?

What chromosome is CF located on?

Cystic fibrosis is a disease that is caused by an abnormal gene. An abnormal gene is called a genetic mutation. The gene that causes problems in CF is found on the seventh chromosome. There are many mutations (abnormal genes) that have been shown to cause CF disease.

Who was the first person to have cystic fibrosis?

Defying the Odds. Dorothy Andersen was born in Asheville, North Carolina, in 1901, and at age 13 moved with her mother to Vermont after the death of her Danish father.

Why does CF cause salty skin?

Why do people with CF have salty skin? In people with CF there is a problem in the transport of chloride across cell membranes. This causes thicker, stickier mucus in the lungs and digestive system, but also results in higher levels of chloride (as salt) in sweat compared with those who do not have cystic fibrosis.

Where is the CFTR gene located in cystic fibrosis?

CFTR. The cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7.

How can you tell if you have a CFTR mutation?

Genetic testing can be used to tell if a person carries a mutation of the CFTR gene. The test looks at a person’s DNA (genetic material), which can be taken from cells in a blood sample or saliva sample.

What is the function of the CFTR protein?

The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas.

How does the CFTR-CF transmembrane conductance regulator function?

CFTR – CF transmembrane conductance regulator This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues.