14.2 Flashcards
What is cystic fibrosis?
When there is a gene missing from the protein CFTR. The animo acid phenylalanine is missing from the protein. Typhoid is caused by bacteria entering the digestive system. The protein from CF allele helps block the entry of this bacterium.
What is hunting tons disease?
Caused by a dominant allele for a protein found in brain cells. They contain a long string of bases where the codon CAGE for amino acid glutamine repeats over and over more than 40 times
What is nondisjunction?
” not coming apart”. Results in gametes with an abnormal number of chromosomes leading to a disorder.
If two copies of an autosomal chromosome fail to separate during meiosis, what could happen?
The individual could be born with three copies of that chromosome. This is known as trisomy.
What is the most common form of trisomy?
Down syndrome, that has 3 copies of the 21st chromosomes. The is characterized by mild to severe mental retardation and a high frequency of birth defects.
What results in turners syndrome?
a missing sex chromosome, a female only inherits one X chromosome, females become sterile because of improperly developed sex organs
What results in Klinefelter’s syndrome?
An extra X chromosome. If males are born with an extra X chromosome, they can not reproduce
What is sickle cell disease?
There are two polypeptides in hemoglobin. The beta globulin is the oxygen carrying protein in blood cells. And it is defective. Makes the hemoglobin less soluble and the molecules start to stick together forming a sickle shape when oxygen level in blood lessens. Individuals with this are healthy are resistant against malaria.
