Cystic fibrosis is a hereditary disorder affecting the
exocrine glands. It causes the production of abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, and bronchi and often resulting in respiratory infection. It is caused by a recessive allele. This means that it must be inherited from both parents. The genetic diagram shows how this can happen.
. Cystic fibrosis is an inherited disorder caused by a
recessive allele. This genetic diagram shows the possible outcomes when both parents are heterozygous for the faulty allele. There is a one in four chance or 25 percent of the offspring being homozygous for the faulty allele, and so having cystic fibrosis.
The image shows how CFTR genes are inherited. A person
inherits two copies of the CFTR gene, one from each parent. If each parent has a normal CFTR gene and a faulty CFTR gene, each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one faulty gene; and a 25 percent chance of inheriting two faulty genes.
The heterozygote case in which the heterozygote
genotype has a higher relative fitness than either the homozygote dominant or homozygote recessive genotype. The specific case of heterozygote advantage due to a single locus is known as over dominance.
Even if there is no history of disease in your family, if you
and your partner are both carriers, there is a 1 in 4 chance with each pregnancy that your child will have cystic fibrosis.
Many young adults with cystic fibrosis finish college or
find employment. Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is approximately 37 years, a dramatic increase over the last three decades.
Children with cystic fibrosis take medicines to loosen the
thick secretions in their lungs. They often take antibiotics. Parents clap their child's chest several times a day to loosen secretions and help them drain.
Children with digestive problems due to cystic fibrosis
need to take medicine (pancreatic enzymes) before meals to help them digest their food.
Many states, including New York, conduct newborn
screening for cystic fibrosis. This means that infants are screened and identified as possibly having cystic fibrosis. Further testing needs to be completed to make the diagnosis definite. This screening program is important because it alerts caregivers to a potential health condition before the infant has a chance to develop breathing and nutritional problems. By making the diagnosis early, doctors and other cargivers can start treatment early and avoid some of the complications of cystic fibrosis.