Other major diseases displaying allelic heterogeneity are allelic mutations in the dystrophin gene which cause Duchenne dystrophy and
mutations
in the CFTR gene that are known to causes cystic fibrosis.
Is cystic fibrosis allelic or locus heterogeneity?
Allelic heterogeneity
describes the ability of different mutations within the same gene to cause the same disease (B). Cystic fibrosis is used to demonstrate this form of heterogeneity, with as many as 1,500 CFTR mutations being attributed to causing the disorder (O’Sullivan and Freedman, 2009).
What type of allele is cystic fibrosis?
Cystic fibrosis is an inherited disorder
Is cystic fibrosis Punnett Square?
| Genotype Phenotype | F F Homozygous dominant No cystic fibrosis (Normal) | F f Heterozygous Carrier (has no symptoms but carries the recessive allele) |
|---|
What is the difference between genetic and allelic heterogeneity?
Allelic heterogeneity occurs when
different variants at a single gene locus cause the same or similar phenotypic expressions of a disease or condition
. Locus heterogeneity
What are four symptoms of cystic fibrosis?
- Chronic coughing (dry or coughing up mucus)
- Recurring chest colds.
- Wheezing or shortness of breath.
- Frequent sinus infections.
- Very salty-tasting skin.
What is the genotype of someone with CF?
| Ethnic Background Risk of CF Mutation Risk of Child with CF | Asian-American 1 in 90 1 in 100,000 |
|---|
How is CF passed down?
Cystic fibrosis is a genetic disease. People with CF have inherited
two copies of
the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene. People with only one copy of the defective CF gene are called carriers, but they do not have the disease.
How many types of cystic fibrosis are there?
Are there different types of cystic fibrosis? There are
over 2,000 identified mutations of the cystic fibrosis
gene. Cystic fibrosis is a very complex condition that affects people in different ways.
How is cystic fibrosis caused?
Cystic fibrosis is a genetic disease. People with CF have
inherited two copies of the defective CF gene — one copy from each parent
. Both parents must have at least one copy of the defective gene. People with only one copy of the defective CF gene are called carriers, but they do not have the disease.
Who has the dominant gene for eye color?
The
brown eye
form of the eye color gene (or allele) is dominant, whereas the blue eye allele is recessive. If both parents have brown eyes yet carry the allele for blue eyes, a quarter of the children will have blue eyes, and three quarters will have brown eyes.
What does it mean for a disease to be heterogeneous?
A heterogeneous medical condition or heterogeneous disease
What is an example of heterozygous?
If the two versions are different, you have a heterozygous genotype for that gene. For example, being heterozygous for hair color could mean you
have one allele for red hair and one allele for brown hair
. The relationship between the two alleles affects which traits are expressed.
What are warning signs of cystic fibrosis?
- A persistent cough that produces thick mucus (sputum)
- Wheezing.
- Exercise intolerance.
- Repeated lung infections.
- Inflamed nasal passages or a stuffy nose.
- Recurrent sinusitis.
What is the oldest living person with cystic fibrosis?
Thanks to advances in DNA testing, doctors are identifying more and more people with CF for the first time well into their 50s, 60s, and 70s. The oldest person diagnosed with CF for the first time in the U.S. was
82
, in Ireland was 76, and in the United Kingdom was 79.
Can you get cystic fibrosis later in life?
As with other genetic conditions,
cystic fibrosis will have been present since birth, even if it is diagnosed later in life
. One in 25 people carry the faulty gene that causes cystic fibrosis. To have cystic fibrosis, both parents must be carriers of the faulty cystic fibrosis gene.
