final Flashcards
(127 cards)
Genetics:
(e) - expected value; ex. 9:3:3:1, 1:1:1:1
(o) - observed value;
Deviation- (o-e) = d
Chi square, square all d’s and add them and divide them by e; Alld^2/e = chisquare
Law of Segregation
that for diploid organisms, each homologous chromosome has an equal chance of being passed on to a given gamete.
Law of independent assortment
that in meiosis non homologous chromosomes assort into gametes independently from another.
Analyzing Chi Square
(df = # of cases minus one)
P > .0.5 (right) = deviation from expected ratio is explained by chance to less likely by chance (reject)
P < .05 (left) = deviation is too great to be due to chance (we fail to reject)
Klinefelter’s male
XXY; unusual body proportions and sterility, subnormal mental ability
XO; Short Stature, webbing of the neck, may have low mental ability and sterility
Turner’s female
Super Female
XXX; May have low mental ability; fertile
“Cri du chat”
defective chromosome #5; catlike cry, severe physical and mental abnormalities, non-lethal, widely spaced eyes flattened nose head is smaller
Patau’s Syndrome
extra chromosome #13; physical abnormalities, lethal soon after birth
Edward’s syndrome
extra chromosome #18; unusual features of the head and fingers; often dies in infancy
Down’s syndrome
extra chromosome #21; characteristic facial features, low mental ability, stocky build, sometimes heart defects.
XYY Condition
XYY; may have some above average height
Why are sex-linked genes much higher in frequency in males than females?
All sex-linked conditions are recessive, a male needs only to receive a single copy of a recessive gene for a sex-linked trait to be expressed phenotypically. A female needs two recessive copies to express the trait.
Turner’s syndrome
a genetic defect in which affected women have only one X chromosome, causing developmental abnormalities and infertility. missing x or incomplete Y, high BP
Breast Cancer
autosomal dominant; BRCA 1 and 2, lump in breast and other complications
Cystic Fibrosis
autosomal recessive, causes a build-up of mucus, causes lung infections. CTFR
inflammation and fatigue, male infertility, inflammation of pancreas
Sickle Cell Anemia
autosomal recessive, painful swelling, HBB gene Causes red blood cells to change shape and cause a build-up of sickle cells and loss of red blood cells.
PKU
Autosomal recessive, a birth defect that causes an amino acid called phenylalanine to build up in the body.
PAH
effectives development
Is DNA negatively or positively charged?
negative
Electrophoresis
procedure that separates pieces of DNA by molecular size and shape so they can be viewed and identifed.
Electrophoresis
made up of sugars that form crosslinks which form pores in the gel matrix. These pores allow for separation of substances by size.
PCR (polymerase chain reaction)
makes many copies of a particular segment of DNA. This synthesis allows scientist to look at differences in DNA between one person or organism and another.
Why is gel electrophoresis viewed under light?
The light allows one to see the DNA fragment and compare how far apart they are form each other.
What happens in electrophoresis because DNA is negatively charged?
DNA molecules are negatively charged because of negatively charged phosphate groups in DNA backbone. They will migrate toward the positive electrode.
