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Law of Segregation
Homologous Chromosomes split during Anaphase I
-2 alleles for each gene separate
Law of Independent Assortment
Nonhomologous chromosomes line up independently during Metaphase I
Thomas Hunt Morgan
-Studied Fruit Flies (Drosophila melanogaster)
-Produce many offspring
-Generation can be bred every two weeks
-Only have 4 pairs of chromosomes (2n=8, n=4)
-Took 2 years to obtain white eyed flies
Wild Type
Normal/Common Phenotypes
-W+=Red eyes
Mutant Type
Alternative phenotypes
-W=White eyes
Male
XY
Female
XX
Morgan's Experiment
P generation: X^W Y x X^W+ X^W+ Male white eyes X Female red eyes
F1 generation: All red eyes
F2 generation: 3:1 red to white eye ratio, only males had white eyes
X Chromosomes
Have 1,100 genes
Y Chromosomes
78 genes
-X & Y chromosomes are nonhomologous
Chromosome Systems
-Humans: XY System (XX Female, XY Male)
-Chickens: ZW System (ZW Female, ZZ Male)
-Grasshopper: XX System (XX Female, X Male)
-Bees: Haplo-diploid system (32 Diploid Fertilized Female, 16 Haploid Non fertilized Male)
Sex-Linked Gene
A gene that is located on either sex chromosome
-X chromosomes are x-linked
-Y chromosomes are y-linked
X Inactivation
In females, one of the 2 X chromosomes in each cell is randomly inactivated during embyronic development
Example: Sweat glands and mosaic patterns
Barr body
A condensed X chromosome
Linked Genes
Genes located on the same chromosome
Genetic Recombination
Production of offspring with combinations of traits differing from either parent
Parental Types
Offspring with a phenotype matching one of the parental phenotypes
Recombinant Types
Offspring with nonparental phenotypes
-Due to crossing over in Prophase I of Meiosis I
Recombination Frequency
-50% frequency for 2 genes on different chromosomes
-Used for gene mapping
Crossing over
Crossing over between homologous chromosomes during Meiosis I leads to recombinants
Genetic Map
Ordered list of loci along a particular chromosome
Sturtevant's Prediction
The farther apart 2 genes are, the higher the probability a crossover will occur between them and therefore the higher the recombination frequency
-More distance -> More crossing over in a larger area -> more recombinants -> higher recombination frequency
-Proved that genes are found on chromosomes
Linkage Map
A genetic map of a chromosome based on recombination frequencies
Map Units
Distance between genes
1% recombination frequency = 1 map unit
-Indicate RELATIVE distance and order, not precise location of genes
Chromosomal Alteration
-Lead to miscarriages in humans
-Plants can tolerate it
Nondisjunction
-Pairs of homologous chromosomes do not separate normally during meiosis
-Anaphase I: Homologous chromosomes don't separate, 100% bad gametes
-Anaphase II: Sister chromatids don't separate, 50% bad gametes (Preferable)
-One gamete receives 2 of the same chromosome, and another gamete receives no copy
-Not common
Aneuploidy
Results from the fertilization of gametes in which nondisjunction occurred
-Extra Individual Chromosomes
-Offspring with this condition have an abnormal number of a particular chromosome
-Bad sperm or egg from nondisjunction + Good egg or sperm
Monosomy (Aneuploidy)
-Monosomic zygote has only one copy of a particular chromosome (n-1)
-Turner Syndrome (X0) : Only viable monosomic disease in humans, monosomy of sex chromosome X
Trisomy (Aneuploidy)
-Trisomic Zygote has 3 copies of a particular chromosome (n+1)
-Trisomy 21/Down Syndrome: Aneuploid condition that results in 3 copies of chromosome 21
a) Frequency increases with age of mother, has not been explained
b) Described by facial features, short stature, fixable heart defects, sterile sex organs, and more
Polyploidy
-Condition in which an organism has more than 2 complete SETS of chromosomes
-Triploidy (3n): 3 sets of chromosomes
-Tetraploidy (4n): 4 sets of chromosomes
-Common in plants: Bananas (3n), Wheat (6n), Strawberries (8n) and some fish
-More normal in appearance than aneuploidies
Alterations of Chromosome Structure
-Deletion: Removes a chromosomal segment (Cri du chat)
-Duplication: Repeats a segment, occurs in S-phase
-Inversion: Reverses orientation of a segment within a chromosome
-Translocation: Moves a segment from one chromosome to another, occurs in non-homologous chromosomes (Chronic myelogenous leukemia (CML), chromosomes 9 & 22)
Aneuploidy of Sex Chromosomes
-Nondisjunction of sex chromosomes doesn't bother humans that much
-XXX: Females are healthy, at risk for learning disabilities
-XXY: Kleinfelter syndrome, result of extra X in male, Testes are smaller, they are taller and lean
-X (X0): Turner Syndrome, produces sterile Females
-XYY: Males with no bad symptoms, taller
Cri Du Chat
Specific deletion in chromosome 5
-Severe intellectual disability and a catlike cry
-Usually die in infancy or early childhood