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What is genetics?
the study of inheritance or inherited traits
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What did Mendel work with?
Garden peas
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Define GENOTYPE
the alleles carried by an individual. Bb will have brown eyes, but so will BB. Bb is the genotype. Brown eyes is the phenotype.
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Define PHENOTYPE
An individual’s observable traits.
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Allele
Forms of a gene that encode slightly different versions of the gene’s product; different forms of the same gene; different instructions for the same trait
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Dominant allele
Refers to an allele that masks the effect of a recessive allele paired with it... in other words it's trait is expressed even when only one is present. Bb= brown eyes. Always.
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Trait
the character for which a gene carries instructions: hair color, eye color, etc
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Gene
- –Region of chromosome with the
- instructions for a specific trait
- –Remember you have two sets of
- genes for every trait
•That is, genes come in pairs
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Homozygous
zygotes have same two alleles—homozygous
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heterozygous
zygotes have two different alleles
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recessive
a trait that is only expressed if both alleles are recessive. bb= blue eyes. only.
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Homozygous dominant example
BB
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Homozygous Recessive example
bb
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Monohybrid cross
Cross in which individuals with different alleles of one gene are crossed.
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Single trait inheritance
Means there is a dominant gene that will show if presented, one gene pair controls the trait.
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Testcross
When you try to cross parental gametes to see if possible children will have certain traits
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Incomplete dominance
When a trait doesn't have a dominant gene, such as hair texture
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Multiple allele inheritance
traits that have more than two alleles controlling them, and some with more than one dominant alleles. Blood type has three alleles with two dominant and one recessive
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Codominant
Refers to two alleles that are both fully expressed in heterozygous individuals. Blood type is co-dominant
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Polygenic inheritance
Many sets of genes effect a single trait. Example, human skin color
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Epistasis
Two genes control a single trait. In other words, one gene controls the expression of a 2nd gene. Example: Labrador coat color
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Pleiotropy
One gene effects many traits, like people with Marfan sydrome (one gene) people are tall and thin with long arms and long legs, and long fingers
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Gene environment interaction
Expression of the gene depends on the surrounding environment. Examples; snowshoe hare's coat turns darker when it warms up. Siamese cat coat turns darker where they are colder (extremities and tips of ears)
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Brown eyes: dominant or recessive?
Dominant. Blue is the recessive eye color trait. B (brown) b (blue)
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Tongue rolling; dominant or recessive
Dominant. U (roll) u (can't roll)
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Mendel's law of segregation
allele pairs separate or segregate during gamete formation, and randomly unite at fertilization
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What parent is solely responsible for the sex of the child?
The father. The mother can only give X's. Father gives X or Y determining the sex.
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Polyploidy
Having three or more of each type of chromosome characteristic of the species. Common in plants. Humans with polyploidy generally don't make it to full term
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Autosomal recessive disorder
Recessive allele on an autosome causes a disorder. Examples: Sickle cell anemia and Cystic fibrosis, albinism, PKU Tay-sachs. Aa is normal but a carrier. AA is normal. aa is affected.
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Autosomal dominant disorder
Dominant allele carries the disorder. AA or Aa has the disorder. aa is normal. Examples: hypercholesterolemia, dwarfism, polydactyly (more than normal number of fingers or toes)
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Aneuploidy
inheriting too few or too many chromosomes, caused by nondisjunction of chromosomes during meiosis ii. Example: Down's syndrome
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Nondisjunction
When sisters fail to separate in meiosis II, or homologous chromosomes fail to separate in meiosis I. It can result in Down's Syndrome, too many chromosomes in a sperm cell, too few chromosomes in an egg cell, aneuploidy
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Cause of Down's Syndrome
Three copies of chromosome 21, aneuploidy, and nondisjunction occurring from meiosis
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Types of genetic disorders by chromosomal mutation
- Inversion
- Translocation
- Deletion
- Duplication
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Inversion
ABCDEFGH -------->ABCFEDGH
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Translocation
- ABCDEFGH------->OPQDEFGH
- OPQRSTUV------->ABCRSTUV
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Deletion
ABCDEFGH------->ABC FGH
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Duplication
ABCDEFGH------->ABCDCDEFGH
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What is Turner Syndrome?
A sex chromosome problem. Only a Single X is inherited, no second chromosome
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What is Klinefelter syndrome?
Too many sex chromosomes XXY, produces sterile men with small breasts
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Triple X Female
Metafemale, superfemale, inherited 3 x's no visible difference to the naked eye
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How can genes be mutates?
Viruses, radiation, chemicals, etc
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Autosome
Any chromosome other than sex chromosomes
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What number are sex chromosomes?
Pair #23
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Where is the "maleness" gene and what does it do?
It's on the Y chromosome, there is a Sex-determining Region of the Y chromosome (SRY). When the gene turns on, male characteristics are produced. If it doesn't turn on (even if present) the fetus will be female. For the first 40 days, males and females are exactly alike.
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Sex linked inheritance
Traits on sex chromosomes other than sex: Blood clotting, male pattern baldness, color vision. All on the X chromosome. Aka sex linked genes. Aka X linked genes. The stuff tends to skip generations
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Universal donor
Type O negative
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