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Doctor insights on:
Cystic Fibrosis Gene Carrier Symptoms
1
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
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
2
Is cystic fibrosis a dominant or recessive trait?
Recessive: One needs two defective copies of the cystic fibrosis to develop the disease. ...Read more
3
Can cystic fibrosis exhibits polyclonal gammopathy?
Yes: This is common because of the frequent bacterial infections. ...Read more
4
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
5
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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6
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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7
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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8
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
9
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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10
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
11
What are the chances of inheriting cystic fibrosis if one parent has trait?
Depends: This depends on the profile of the other parent. Their are dozens of mutations that can lead to CF, although most are the delta 509. Both parents must carry a CF related gene for an offspring to get it, and if so the risk is 25%. Carrier testing is available through specialty labs.If only one has trait ,zero. ...Read more
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12
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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13
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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14
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
15
Help please! could cystic fibrosis be passed on offspring?
Recessive: Cystic fibrosis (CF) requires both copies of the gene to carry a mutation (one copy each from mother and father). The way a person usually gets CF is if both of their parents are unaffected carriers (one mutated copy and one normal copy). In this situation, there is a 25% chance that the offspring will get cf, 50% chance of being an unaffected carrier, and a 25% of inheriting two normal copies. ...Read more
16
Is autosomal dominant polycystic kidney disease testing available ?
Yes, but......: Testing for this disease is safe and simple but beware of what you ask for. Knowing that you have polycystic kidney disease will make it difficult or expensive to obtain life and health insurance. Best to get these issues under control first as early diagnosis (before renal insufficiency) offers no benefit. Knowing that you have the gene prior to having children is useful for family planning. ...Read more
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17
Can a child inherit 2 CF gene mutations from a symptomless mother and also have no symptoms?
CF: Cystic fibrosis is an inherited genetic disease. One gene with a CF mutation is inherited from each parent. Parents are either carriers or have the disease itself. Since there are many mutations that can cause cf, the clinical symptoms vary considerably. Initially, infants and children may have no symptoms. The cff.Org or prmg respiratory practice (fax 858 259 9689) for further information. ...Read more
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18
Help please! could cystic fibrosis be passed through offspring?
Confusing question: An estimated 1/20 people carry one mutation of the CF gene and if they have children with another carrier they have a chance every time to produce a CF affected baby. That CF baby has diminished fertility but may have kids and only if they marry a carrier will their kids have risk, as high as 50%. ...Read more
19
Can people with cystic fibrosis receive lung transplant?
Yes: Cystic fibrosis is a common indication for lung transplant. ...Read more
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20
Was diagnosed with cystic fibrosis. What is it like living with cystic fibrosis?
It depends: It really depends on the severity of the disease. Not all patients experience the same symptoms and the same course. ...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
Dna (Definition)
Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more
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