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29 Cards in this Set

  • Front
  • Back
Epistasis
One gene masks the effect of the other due to a biochemical pathway being blocked at one point and preventing expression at another point
Kinetochore
set of proteins that assemble on centromere; point of attachment to microtubules
Shugoshin
protects the cohesion at the centromeres; separase breaks down cohesin on chromosome arms in meiosis 1-->shugosin keeps cohesin protected at the centromere.
Leptotene
Chromosomes contract/chromatin coils and chromosomes become visible. Homologs are unpaired
Zygotene
Chromosomes continue to condense, synapsis begins, crossing over starts (can't be seen though)
Each pair of synapsed chromosomes are called
Tetrads
Pachytene
Chromosomes continue to condense; form 3-part synaptonemal complex, chiasmata occurs.
Diplotene
Chiasmata is visible. Centromeres move apart so chromosomes are attached at EACH CHIASMA
Diakinesis
Nuclear membrane is broken down; Nucleolus is gone; Chromosomes shortened; centrioles at poles; spindle fibers present
Reductional Division
Occurs so daughter cells will have 1/2 # of chromosomes
Autosomal Recessive Mendelian Traits From notes
Cystic Fibrosis
Tay-Sacs
Albinism
MUTYH - associated with colon cancer
Autosomal Dominant
Achondroplasia (dwarfism)
Congenital Night Blindness
Huntingtons Disease (not strictly Mendelian)
Neurofibromatosis - brown spots on neonates - develop into benign tumors
Congenital Cataracts
Osteogenesis Imperfecta
MCR1
milanocortin receptor gene --> freckles + red hair (and blond hair); susceptibility to skin cancer; not strictly dominant or recessive—has modifier genes. High correlation of skin cancer with M-gene.
Klinefelters
XXY
Turner Syndrome
XO
Detrimental effects of XYY?
Usually none; prison study was incorrect.
Genes on the Y-chromosome
ANT3 and DAZ1
ANT3
enzyme that moves ADP into and out of mitochondria
DAZ1
involved in male infertility
X-ist Genes
Activate and produce a special type of RNA. The RNA coats the chosen X to inactivate. RNA coats until the enzymes can not read the DNA on the chromosome anymore
Minor (MN) Blood groups genotypes
MM = M
MN = MN
NN = N
Penetrance
Percentage of organisms that have a given Genotype that then actually express the Phenotype. Example: Huntingtons.
Epigenetics
How you modify your own gene expression
Epistasis
term applied when one gene interferes with the expression of another. Ratio is 9:7 (9:3:3:1 → 3+3+1 = 7) Example: Bombay phenotype.
Holandric
Y-linked genes. Example: Hairy Pinna (ears)
Calico Genotypes
X-linked:
Color................Female..............Male
Black ...............BB...................BY
Calico...............Bb.........(only in XXY)
Orange ............bb.....................bY
Pattern Baldness Genotype/Phenotype
Genotype......................Phenotype
...................................Female...........Male
BB..............................Bald................Bald
BN..............................Hair.................Bald
NN..............................Hair.................Hair
Parakeets Genotypes
B_C_ = Green
bbC_ = Sky Blue
B_cc = yellow
bbcc = white
Order of Prophase 1 sub-phases
Leptotene, zygotene, Pachytene, Diplotene, Diakinesis