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Doctor insights on: Cystic Fibrosis Gene Carrier

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Is cystic fibrosis autosomal dominant in genetics?

Is cystic fibrosis autosomal dominant in genetics?

Recessive: Both parents must carry the gene with a 25% chance (1:4) with each conception that the baby will have cystic fibrosis. ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Is cystic fibrosis a dominant or recessive trait?

Is cystic fibrosis a dominant or recessive trait?

Recessive: One needs two defective copies of the cystic fibrosis to develop the disease. ...Read more

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Cystic fibrosis disease is carried by a recessive allele on which gene?

CFTR: Cystic fibrosis is caused by a mutation of the cftr gene, or cystic fibrosis transmembrane regulator, on chromosome 7. Cftr works as a chloride ion channel which helps to regulate chloride and sodium movement in your lungs and sweat ducts. ...Read more

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Is pulmonary fibrosis inherited?

Is pulmonary fibrosis inherited?

Pulmonary fibrosis: While I have not seen it commonly there are some families with a history of pulmonary fibrosis. Most of my office patients and previous fibrosis patients I have come across are the only ones in their family with fibrosis. I have one patient in my practice with several family members with progressive and ultimately fatal fibrosis. She has been evaluated at duke university with a genetic workup. ...Read more

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Atypical cystic fibrosis life expectancy?

Atypical cystic fibrosis life expectancy?

Depends: Without a full exam and review of medical records and history of infections secondary to CF would be remiss in trying to become an actuarial. Go see a pulmonologist and discuss the options and likely outcomes. ...Read more

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Sickle trait is a recessive gene?

Sickle trait is a recessive gene?

basically yes: The mutation that causes sickle cell disease is a recessive mutation in that you need two copies of the changed gene to have the disease (or one copy plus another mutation on the other gene like beta thalassemia, hemoglobin c, hemoglobin e, etc). If you only have one copy, you have sickle cell trait. ...Read more

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Is pulmonary fibrosis genetic?

Is pulmonary fibrosis genetic?

Some are: Some families have multiple members who develop pulmonary fibrosis although sporadic cases are more common. The exact genetic inheritance is unknown. ...Read more

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Is CTFR gene the same as being aCystic Fibrosis Carrier?

Is CTFR gene the same as being aCystic Fibrosis Carrier?

Not necessarily: The CFTR gene, or mutations in this gene, are what are often being tested for in patients suspected of being cystic fibrosis carriers or suffering from the disease itself. If you are a carrier then you will have one copy of your CFTR gene with an abnormality. ...Read more

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Are idiopathic pulmonary fibrosis cystic fibrosis the same?

Are idiopathic pulmonary fibrosis cystic fibrosis the same?

No: Two completely different diseases. CF is an inherited disorder leading to failure to clear mucus and repeated infections. It does end up with fibrosis in the lungs. Idiopathic fibrosis is a disease of unknown cause where scar tissue replaces normal lung and eventually causes respiratory failure. ...Read more

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How can the cystic fibrosis gene affect tuberculosis?

How can the cystic fibrosis gene affect tuberculosis?

Lung Function: The gene itself will not affect tuberculosis. However, if an individual receives 2 recessive genes of the cftr mutation from their parents, they will develop cystic fibrosis (cf). Because CF can lead to repeated bacterial lung infections (among other things), the lungs would already be in a weakened state if exposed to the causative agent of tuberculosis. This might lead to faster disease onset. ...Read more

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Can a carrier of the Cystic Fibrosis gene ever be symptomatic?

Can a carrier of the Cystic Fibrosis gene ever be symptomatic?

Autosomal recessive: CF is an autosomal recessive genetic disorder. Complete expression of the disease (symptoms) do not typically occur in people who do not have both copies of the defective gene (carriers only have one). ...Read more

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Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

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Does gene therapy help a cystic fibrosis sufferer?

Does gene therapy help a cystic fibrosis sufferer?

Trials: Clinical trials for genetic therapy are underway. As of this time there is no approved method for gene tx in cf. Kalydeco, (ivacaftor) a new drug, dose reverse the effects of one subtype of cf, but it dose so by aiding the damaged sodium-chloride transporter to get in proper position and function normally. ...Read more

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

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What are dominant vs recessive gene diseases?

See below: With a dominant gene trait, the child only needs to receive one copy of the abnormal gene. So, they have a 50% chance of getting the gene. With a recessive gene, the child needs 2 copies of the gene. So, they have a 25% chance of having both genes. ...Read more

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Is the beta-thalassemia gene recessive or dominant?

Is the beta-thalassemia gene recessive or dominant?

Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...Read more

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Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dr. William Walsh
992 doctors shared insights

Cystic Fibrosis (Definition)

A genetic disorder of the lungs and digestive tract. It causes recurrent lung infections and inhibits growth in patients and average life expectancy of patients with cystic fibrosis ...Read more