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95 Cards in this Set

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An Augustinian monk that worked with garden peas and studied their characteristics; formulated 2 basic laws of genetics governing nature of inheritance.
Gregor Mendel.
Feature, e.g. flower color.
Character.
Variant of a character, e.g. purple, white...
Trait.
Each cell has how many genes per character?
Two.
How many genes for a character in a homologous PAIR?
One gene for each chromosome.
In a homologous pair, how many genes come from mom and how many genes come from dad?
One gene comes from each parent.
Different genes for the same character.
Alleles.
Alleles are also called ______.
Variants.
Purple and white are the 2 ______ for flower color in peas.
Alleles.
Mendel found that alternative genes are responsible for variations in ______.
Inherited characters.
Alleles that always show themselves.
Dominant Alleles.
Alleles that show themselves if they are found in pairs.
Recessive Alleles.
Dominant Alleles over Recessive Alleles.
Principle of Dominance.
Dominant genes are shown as a _________ letter.
Capital.
Recessive genes are shown as a _________ letter.
Small.
How many genotypes are possible?
Three.
Genotype PP is known as...
Homozygous Dominant; e.g. Pure purple.
Genotype Pp is known as...
Heterozygous aka Hybrid.
Genotype pp is known as...
Homozygous Recessive; e.g. Pure white.
What is the physical appearance that results from this pair of genes called?
Phenotype.
What do PP and Pp have in common so they produce purple flowers?
Dominant alleles.
pp has what kind of alleles so it produces white flowers?
Two Recessive alleles.
Two alleles for a character segregate randomly into gametes. Each gamete contains ONE allele.
Mendel's 1st Law of Segregation.

Example: Pp -> P or p
Are gametes Haploid or Diploid?
Gametes are Haploid.
The P Generation is followed by the __________.
F1 generation.
If the P generation is TT x tt, what will be the F1 generation?
Tt.
Two alleles: T = tall and t = short.
if parents are TT x tt, what is the F1 generation's PHENOTYPE?
F1 generation will be tall.
What is the grid called where Mendel finds out an offspring?
Punnet Square.
What does P generation stand for?
Parent Generation.
What does F1 stand for?
1st Filial Generation (sons & daughters of parents)
What does F2 stand for?
2nd Filial Generation (cross brother & sister to produce grandchildren)
TT is an example of a(n) _____.
Genotype.
T is an example of a(n) ______.
Allele.
Tall is an example of a(n) ______.
Phenotype.
Example: T = Tall, t = Short

What is the probablity that a given offspring will be tall if Punnet Square reads: TT, Tt, Tt and tt?
75% as 3 out of four are tall.
Example: T = Tall, t = Short

What is the RATIO of the phenotypes if the Punnet Square reads: TT, Tt, Tt and tt?
3:1.

TT = Tall, Tt = Tall, tt = Short
Example: T = Tall, t = Short

What is the RATIO of the following genotypes: TT, Tt, and tt?
1:2:1.

TT = 1, Tt = 2 and tt = 1

Punnet Square reads TT, Tt, Tt and tt after test crossing.
How can one find out the unknown genotype?
By performing a Test Cross.
A _____ crosses an unknown genotype with a homozygous recessive.
Test Cross.

Example: T_ x tt
These study the two characteristics of heighth and eye color.
Dihybrid Crosses.
How many sets of alleles for the following:

Height: T = Tall; t = short
Eye Color: B = Brown; b = Blue
Two different sets of alleles.
Each pair of alleles segregate into gametes independent of the other pair.
Mendel's 2nd Law: Law of Independent Assortment.
Genes on the same chromosome.
Linked Genes.

Example: Red hair & Freckles
How many different Gametes?

AaBBCcDDEeff
8 Combinations.

Aa BB Cc DD Ee ff
2x 1x 2x 1x 2x 1 = 8
Blending or Partial Dominance.
Incomplete Dominance.
Flower color in snapdragons:

R = Red
r = White
Incomplete Dominance.
The ABO blood groups are an example of _______.
Multiple Alleles.
Name the alleles in the ABO blood group.
A = codominant
B = codominant
O = recessive
What has replaced ABO blood grouping in paternity tests?
DNA Fingerprinting.
Humans have 23 pairs of chromosomes. How many pairs are autosomes? How many pairs are sex chromosomes?
22 pairs are autosomes; 1 pair is sex chromosome.
What are the two sex chromosomes?
X and Y.
What is sex chromosome 'X' purpose?
Required for life (existence).
What is sex chromosome 'Y' purpose?
Determines sex.
Which parent determines the child's sex?
The Father.
In somatic (body) cells of females, one of the two 'X' chromosomes is inactivated, coiling up in the corner of nucleus. What is this cell called?
A Barr Body.
During Meiosis, a gamete can wind up with more than one pair of chromosomes or none.
Nondisjunction (abnormal segregation).
Abnormal segregation of chromosomes.
Nondisjunction.
The abnormal # of chromosomes meiosis produces.
Aneuploidy.
Monosomy and Trisomy.
Types of Aneuploidy
One chromosome instead of a pair.
Monosomy.
Three chromosomes instead of a pair.
Trisomy.
Genotype = XO; No Barr Body; Live female; 1/5000 births, sterile and short; most normal IQ
Turner Sydrome.
Genotype = XXY; Live Male; 1/2000 births; Testes small/breasts enlarged; sterile; normal IQ
Klinefelter Syndrome.
Genotype = YO
Non-living; no X.
Genotype = XXX; 1/1000 births; tall, high IQ
Super Female.
Three Chromosome 21; 1/700; severly alters phenotype; short; heart defects; facial features; mental retardation
Down Syndrome; Trisomy 21.
Sex-linked disorders are carried on by which sex chromosome?
The 'X' chromosome.
Examples would be Hemophilia and Color blindess.
Sex-linked (recessive allele) disorders.
XcXc + XcY
Color Blindness.
XcXc + XcXc; XcY
Color Vision.
Sex-Influenced disorders are carried on which type of chromosomes?
Autosomes.
Examples are Peptic Ulcer and Male Pattern Baldness.
Sex-Influenced Disorders.
One allele having more than one effect (two phenotypes).
Pleiotropy.
Examples are Cross-Eyed White Tigers and Sickle Cell.
Pleiotropy.
Gene at one locus alters phenotype expressed by gene at another locus.
Epistasis.
Example would be the black/brown coat of a mice.
Epistasis.
More than one gene affects phenotype.
Polygenic Traits.
Example would be skin color in humans.
Polygenic Traits.
Photo of chromosomes arranged in order from largest to smallest.
Karyotype.
The photos can detect # of chromosomes; missing pieces; moved pieces and sex of baby
Karyotypes.
Where do you get cells to do a karyotype?
From white blood cells; Cells from baby from amniocentisis and chorionic villus sample (CVS)
Add colchicine to stop Metaphase; removes some baby cells in amnio fluid
Amniocentisis.
Getting a sample of the placental tissue and testing it.
Chorionic Villus Sampling.
Amniocentisis tests cells during which phase?
Metaphase.
Type of test that helps detect: Carrier recognition, amniocentisis, chorionic villus sampling; newborn screening
Fetal Testing.
Huntington's Disease: Dominant or Recessive Disorder?
Dominant Disorder.
Cystic Fibrosis, Tay-Sachs: Dominant or Recessive Disorder?
Recessive Disorders.
Duchene's Muscular Dystrophy; Hemophelia; Fragile X Syndrome; Color Blindness.
Sex-linked Disorders.
Heart disease, diabetes, cancer.
Multi-factorial Disorders.
Recessive genetic disease that causes mental retardation; can be controlled by diet.
Phenylketonuria.
How do doctor's detect Phenylketonuria (PKU)?
Poking a "heel stick" at birth.
Deletion, Inversion and Translocation
Chromosomial Mutations.
Chromosomial Mutation where whole or part of a chromosome is deleted.
Deletion.
Chromosomial Mutation where piece of a chromosome breaks off or reattached wrong.
Inversion.
Chromosomial Mutation where piece of a chromosome breaks off and moves to another chromosome.
Translocation.