Content Outline: Mendelian Genetics (5.2)
A. The dominant allele has information and it is expressed, even if there is only one copy. Geneticists call this “100% penetrance”. II.
A. Information from both alleles is expressed in the cell. Neither phenotype is completely penetrant, therefore the heterozygous phenotype appears “blended”. (Red + White = Pink)
A. Both alleles are expressed in the cell. They are both equally present in terms of phenotype, i.e. black and white coats in animals, AB blood type in humans.
A. There are multiple (more than 2) versions of the same basic allele.
B. The glycoprotein “hands” of red blood cells is a classic example. These “hands” (antigens) identify the blood types.
One dominant allele results in the presence of A antigens on the surface of red blood cells. Another dominant allele results in the presence of B antigens on the surface of red blood cells. A third allele results in no antigen and is a recessive allele. This condition is referred to as Type O. Since it is recessive, the gene or stretch of DNA that codes for these proteins has no code for A or B antigens, so neither is made.
C. Universal Donor – Can give blood to anyone. Since the O type blood has neither A nor B antigens, it does not cause a reaction in the bodies of people who have A, B, AB or O blood types.
D. Universal Recipient – Can receive blood from anyone. Since the blood cells have both A and B antigens, there is no reaction if those cells are mixed with A, B, AB, or O blood types.
Pedigree how do you tell if its male or female?
A. This is a family history of trait occurrence in chart form.
B. These help tell the past occurrences of traits and can be useful in predicting the future occurrence of traits.
C. The power of pedigrees is their ability to predict possible genotypes and thus phenotypes of future generations.
A. Only occur in the homozygous recessive state.
B. Carriers – These are organisms that are heterozygous in genotype. (They are 50/50 in terms of passing on an allele for the trait.) These organisms usually appear normal for the trait as they possess one dominant allele.
C. Human recessive disorders:
1. Cystic Fibrosis (Also referred to as “CF’.)
a. This is the most common lethal genetic disease among people of European descent.
b. This disorder affects 1 in 2,500 births.
c. In Caucasians, 1 in 25 people is a carrier for the disorder.
d. The disorder creates a faulty Chloride ion (Cl-) protein carrier on cell membranes in the lungs.
This causes fluid (water) to build up in the lung tissues.
People drown in their own fluid. ii. They are also prone to get multiple infections in the lungs.
e. Treatment? Since it is genetic there is no cure. Patients have to get the fluid drained from the lungs periodically for their entire life. There are medicines to help reduce the number of times this has to occur. 2. Sickle-cell Disease
a. This disorder is the most common genetic disorder among people of African descent.
b. It affects 1 in 400 births.
c. The 6th Amino Acid in the hemoglobin molecule is changed (Glutein Valine) in the primary sequence needed to make red blood cells. (The easy way to remember this is: 666 is the number of the beast. 6 is the amino acid that changed to create this horrible disease. It went from good
[glutein] to very bad [valine].)
d. Sickle- cell trait (“trait” is used to refer to individuals that are carriers.)
These individuals have resistance to Malaria because