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Students should be able to do: 1. Solve genetics problems using simple probability (Punnett Squares) to predict outcomes (phenotypes and genotypes) of various crosses for all patterns of inheritance. 2. Interpret a pedigree showing inheritance of traits and disease. 3. Interpret a karyotype. 4. Describe the Mendelian Laws of Segregation, Independent Assortment and Dominance. 5. Describe and/or predict observed Patterns of Inheritance : Dominant and Recessive (Monohybrid and Dihybrid) , Incomplete Dominance, Codominance, Multiple Alleles, Polygenic , Sex-Determination, Sex-linked, Sex Influenced.
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allele
the various forms of a trait (alternate form of a gene)
gene
a segment of DNA that contains coding for a polypeptide or protein; a unit of hereditary information
codominance
an inheritance relationship in which both alleles are present in the offspring (Ex: Black and white chickens breed to have a white chicken with black speckles)
sex-influenced trait
a trait which is influenced by the presence of male or female sex hormones. Expressed in only one sex, and located on autosomes (Ex: Balding is dominant in males but recessive in females)
homozygous / pure
a gene pair in which two alleles code for the same trait (Ex: BB or bb)
P generation
the “parent generation”
F1 generation
the first filial generation. The offspring of the P generation
F2 generation
the second filial generation. The offspring of the F1 generation
Punnett Square
a model used to establish the probabilities of the results of a genetic cross between two parents
recessive
the allele that is masked by the presence of another allele for the same characteristic. The allele is not expressed unless both alleles are _________ (Ex: bb)
sex chromosome
chromosomes which determine the sex
sex-linked
traits which are controlled by genes on the X or Y chromosome. Most X-linked traits are recessive and Y-linked traits are passed from father to son
heterozygous / hybrid
when the alleles are different (Ex: Bb)
Gregor Mendel
The “Father of Genetics.” An Austrian monk who studied the inheritance of traits in pea plants and created the laws of inheritance between 1856 to 1863. His work would not be recognized until the 1900’s
dominant
the allele that masks the presence of another allele for the same characteristic
phenotype
the physical appearance of the individual
genotype
the genetic makeup of the individual which can be represented by two letters
incomplete dominance
when dominant and recessive alleles are blended together (Ex: Pink snapdragon flowers from red and white parents)
test cross
crossing the tested organism with the recessive phenotype. If a homozygous recessive phenotype is among the offspring, the parent must be heterozygous
karyotype
a picture of an individual’s chromosomes. 23 pairs, 46 in total
agglutination
the clumping of blood cells due to matching antigens and antibodies, creating a jelly-like texture (Ex: A antigens will clump when exposed to A antibodies)
antigens
a protein or carbohydrate that acts as a signal and enables the body to recognize foreign substances. Found on the surface of red blood cells
antibodies
proteins which help destroy substance, such as pathogens, that enter the body and can cause diseases
universal donor
O-
universal recipient
AB+
multiple alleles
when there are more than just two possible alleles for a particular trait (Ex: Blood types; A, B, and O)
parent cross
the first set of parents in a genetic cross who are crossed to produce offspring; the P generation
pedigree
constructed to show the pattern of inheritance of a characteristic within a family across multiple generations. Males are squares, females are circles, shaded shapes mean the person expresses the trait, unshaded shapes mean the person does not express the trait, and half-shaded shapes mean the person is a carrier
polygenic
traits which are influenced by multiple genes, but NOT alleles (Ex: height, eye color, hair color, and skin color)
syndrome
a group of symptoms which consistently occur together, or a condition characterized by a set of associated symptoms
amniocentesis
a sampling in which a small amount of amniotic fluid is extracted from the amnion (sac surrounding fetus), which is where fetal cells and proteins can be analyzed and be prepared as a karyotype
Sickle Cell Anemia
an autosomal recessive trait in which there are abnormal hemoglobin molecules and sickle-shaped red blood cells, causing impaired blood circulation and organ damage
Duchenne Muscular Dystrophy
a recessive X-linked trait in which muscle fibers degenerate, causing a wasting away of muscles and shortened life expectancy
Huntingtons’ Disease
an autosomal dominant disease in which an inhibitor is produced, blocking brain cell metabolism and gradual deterioration of brain tissue at middle age; shortened life expectancy
Cystic Fibrosis
an autosomal recessive trait where a failure of chloride ion transport mechanism occurs, leading to mucus clogs in the lungs, liver, and pancreas; victims typically don’t survive to adulthood
Hemophilia
an X-linked recessive trait where there is a defective form of blood-clotting factors, leading to blood-clotting to fail
albinism
a genetic condition that results in reduced or absent melanin production, leading to lighter skin, hair, and eyes
color blindness
a recessive X-linked disorder in which a person cannot distinguish between colors
PKU / phenylketonuria
a genetic disorder in which the body cannot metabolize the amino acid phenylalanine, causing an accumulation of phenylalanine and severe brain damage
epigenetics
the study of how your behaviors and environment can cause changes that affect the way your genes work
epigenome
chemical compounds and proteins that can attach to DNA and direct such actions as turning genes on or off, controlling the production of proteins in particular cells