phocomelia is a defect in the development of the long bones. causing a shortened limb can affect one or more of the limbs. the hands and feet are generally not affected.
How does cystic fibrosis progress over time?
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Where can one find information on cystic fibrosis treatment?
An excellent source of information on cystic fibrosis, the Cystic Fibrosis Foundation can be accessed in a number of ways. Information on a local chapter can be accessed via phone at 800-344-4823.
What would be the genotype of a person with cystic fibrosis?
The genotype of a person with CF is cc. The genotype of a carrier of a CF mutation is Cc.
Need address to send donations to cystic fiboris foundation?
Cystic Fibrosis Foundation (US)- make donation on the link below:
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Which race is most likely to get cystic fibrosis?
Cystic Fibrosis is more prevalent among people with European and Caucasian decent. 70,000 people worldwide suffer from the condition, and an estimated 2,500 Caucasians inherit the disorder.
Cystic fibrosis is an example of?
Cystic fibrosis is an example of an autosomal recessive genetic disease. It is caused by the mutation in the cystic fibrosis trans membrane regulator (CFTR) gene. This gene codes for a chloride ion channel important in creating digestive juices, mucus and sweat. A single mutated copy of the CFTR gene does not lead to disease. There have to be mutations in both alleles in order for the disease to manifest. Therefore, it is labeled as an autosomal recessive genetic disorder.
What must be true of a person with cystic fibrosis?
Both parents had at least one allele for cystic fibrosis.
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..Cystic fibrosis (CF), is one of the more thoroughly understood genetic diseases. [FIG 1] As such, it provides guidance in understanding how a single genetic mistake can give rise to a wide array of medical problems. It also provides a cautionary tale: our ability to understand genes, proteins and even cells far exceeds our ability to unravel the complex interactions that give rise to organ-level disease.
Why are the sperm tubes of males blocked because of Cystic Fibrosis?
There is a lot of mucus build up in those tubes which does not allow for the tubes to be clogged.
Although Cystic Fibrosis does not cause sexual impotency, it can lead to fertility problems. In most men with CF, the tubes that carry sperm are blocked, which causes infertility.
The faulty gene causes the misfolding of a protein called the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). CFTR is responsible for the movement of chloride and sodium ions into and out of cells. The lack of salt and water on the surface of the cells causes the mucus to become extremely thick and sticky which builds up in and clogs organs.
If you have cystic fibrosis what internal secretion of the body becomes thick and sticky?
If you have cystic fibrosis what internal secretion of the body becomes thick and sticky?
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What percentage of Caucasian Americans are carriers of the Cystic Fibrosis?
Approximately 1 in 31 Caucasian Americans are carriers of the cystic fibrosis gene, which equates to around 3.2% of the population.
How does In vitro Fertilisation prevent cystic fibrosis?
In vitro fertilization (IVF) can help prevent cystic fibrosis (CF) by allowing for preimplantation genetic diagnosis (PGD). This process enables embryos created through IVF to be tested for the CFTR gene mutations responsible for cystic fibrosis before implantation. By selecting only embryos that do not carry these mutations, parents can significantly reduce the risk of having a child with CF. Thus, IVF combined with PGD provides a way to ensure a higher likelihood of a healthy embryo free from the disease.
Why do sufferers of cystic fibrosis seem to get tired?
Sufferers of cystic fibrosis often experience fatigue due to the increased energy expenditure required for breathing and maintaining lung function. The thick mucus associated with the disease obstructs airways and leads to chronic lung infections, making it difficult to oxygenate the body effectively. Additionally, the nutritional deficiencies caused by pancreatic insufficiency can result in a lack of energy and overall fatigue. This combination of respiratory and nutritional challenges contributes significantly to their tiredness.