Cystic fibrosis
Jasmin, Kira and Asall.
Description of the genetic disorder cystic fibrosis:
The disorder affects your lungs, intestines, pancreas and liver. Your body gets infected with a bacterial infection, which blocks the use of different organs. The disorder reduces absorption of fat in the pancreas, which causes vitamin deficiency, troubled digestion and male sterility, its an inherited disease not a transmitted one.
The disorder affects your lungs, intestines, pancreas and liver. Your body gets infected with a bacterial infection, which blocks the use of different organs. The disorder reduces absorption of fat in the pancreas, which causes vitamin deficiency, troubled digestion and male sterility, its an inherited disease not a transmitted one.
It’s a recessive genetic disorder, which means you inherit the disorder from your parents, but because it’s a recessive you aren’t necessarily affected from the disease, you just carry the gene. To get sick with disease both your parents have to have the gene, and even then there’s only a ¼ chance that you get it. There’s a 2/4 chance that you carry the gene but isn’t affected and a ¼ chance that you are completely healthy and not a carrier of the gene.
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About 1/4700 people are ill with the disorder in Denmark, and about 1/34 (3%) of the population carries the mutated gene. Without treatment most die within the first years of their lives, but with improved treatment children born today who has the disorder has an 80% chance of living to be older than 45 years old.
The treatment involves antibiotics, which kill the bugs that get into the child’s chest and by killing the bugs prolong the life of the child. It also involves vaccinations, which keeps dangerous diseases away, like measles, which would be vital to get if you already had cystic fibroses as measles affect your lungs. Except for medications, the child has to stay healthy as in eating healthily and exercising regularly. |
The disorder is most common among Caucasians, and is one of the most common life shortening genetic diseases in the west, especially in northern Europe except Finland where only 1/80 people carry the disease.
Thea, Danni and Mathilde
Cystic fibrosis is an autosomal recessive genetic disorder.
The disorder is characterized by an abnormal transport of chloride and sodium in certain cells in the lunges, pancreas and sudoriferous glands.
It’s the most frequent genetic disorder in Western Europe. Without treatment most people die during the first couple of years but today the chances are that the people with the disorder will live more than 40 years.
The certain mechanism is unknown, but amongst other things the abnormal transport of chloride clogs the airways, which results in a frequent inflammation of the lunges.
The disorder is characterized by an abnormal transport of chloride and sodium in certain cells in the lunges, pancreas and sudoriferous glands.
It’s the most frequent genetic disorder in Western Europe. Without treatment most people die during the first couple of years but today the chances are that the people with the disorder will live more than 40 years.
The certain mechanism is unknown, but amongst other things the abnormal transport of chloride clogs the airways, which results in a frequent inflammation of the lunges.
In a genealogical table you name the generations with Roman numbers from top to bottom, and the individuals with regular numbers from left to right.
Since the disorder is recessive you need to have two genes for cystic fibrosis, and you can be a carrier of the gene as for example I-1 and I-2, who have the genotype Cc, that way they can give the dysfunctional gene to their children who can either become carriers or get the disorder, if they get a dysfunctional gene from each of their parents, as for example III-3 and IV-4.
The present spread of the disease
Worldwide: Around 70.000-100.00 people have the disease worldwide. It is difficult to give an exact number in the countries that don’t have organized health care.
Denmark: in Denmark we have around 450 CF-patients (2010). Around 1 out of 4.200 live-born children have the disease. 150.000 Danes are carriers of the gene.
Iceland: since 1958 only 21 people have diagnosed with the disease. The current estimation is that around 1 out of 7000 have the disorder. Around 2-3% of Iceland’s population are carriers of the gene.
Chances of getting the disorder
If two carriers of the gene parent 4 children, the odds are that 1 out of the four children will get two genes for CF and one will get two healthy genes. The two other children will be carriers of the gene, but because the genes are given completely at random, it may be that all four of them have the disorder or maybe all four of them get two healthy genes.
Since the disorder is recessive you need to have two genes for cystic fibrosis, and you can be a carrier of the gene as for example I-1 and I-2, who have the genotype Cc, that way they can give the dysfunctional gene to their children who can either become carriers or get the disorder, if they get a dysfunctional gene from each of their parents, as for example III-3 and IV-4.
The present spread of the disease
Worldwide: Around 70.000-100.00 people have the disease worldwide. It is difficult to give an exact number in the countries that don’t have organized health care.
Denmark: in Denmark we have around 450 CF-patients (2010). Around 1 out of 4.200 live-born children have the disease. 150.000 Danes are carriers of the gene.
Iceland: since 1958 only 21 people have diagnosed with the disease. The current estimation is that around 1 out of 7000 have the disorder. Around 2-3% of Iceland’s population are carriers of the gene.
Chances of getting the disorder
If two carriers of the gene parent 4 children, the odds are that 1 out of the four children will get two genes for CF and one will get two healthy genes. The two other children will be carriers of the gene, but because the genes are given completely at random, it may be that all four of them have the disorder or maybe all four of them get two healthy genes.
If a carrier and a homozygote healthy person get children with one another none of the children will get cystic fibrosis, since you need a gene for CF from both of your parents to get it. Two of the children will be carriers, though. The same goes for a sick and a homozygote healthy person, except all of the children will be carriers. If a sick person and a carrier give birth to 4 children the odds are that two of the children will get the disease and the other two will be carriers.
If a sick person and a carrier give birth to 4 children the odds are that two of the children will get the disease and the other two will be carriers.