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THE CHROMOSOMAL BASIS OF INHERITANCE
CHAPTER 15
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What you must know: How the chromosome theory of inheritance connects the physical movement of chromosomes in meiosis to Mendel’s laws of inheritance. The unique pattern of inheritance in sex-linked genes. How alteration of chromosome number or structurally altered chromosomes (deletions, duplications, etc.) can cause genetic disorders. How genetic imprinting and inheritance of mitochondrial DNA are exceptions to standard Mendelian inheritance.
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Chromosome theory of inheritance:
Genes have specific locations (loci) on chromosomes Chromosomes segregate and assort independently Chromosomes tagged to reveal a specific gene (yellow).
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Thomas Hunt Morgan Drosophila melanogaster – fruit fly
Fast breeding, 4 prs. chromosomes (XX/XY) Sex-linked gene: located on X or Y chromosome Red-eyes = wild-type; white-eyes = mutant Specific gene carried on specific chromosome
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Sex determination varies between animals
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Sex-linked genes Sex-linked gene on X or Y Females (XX), male (XY)
Eggs = X, sperm = X or Y Fathers pass X-linked genes to daughters, but not sons Males express recessive trait on the only X (hemizygous) Females can be affected or carrier
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Transmission of sex-linked recessive traits
Sperm Ova
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Sex-linked disorders Colorblindness Duchenne muscular dystrophy
Hemophilia
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Because of this only female cats can be tortoiseshell or calico.
X-Inactivation Barr body = inactive X chromosome; regulate gene dosage in females during embryonic development Because of this only female cats can be tortoiseshell or calico.
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Human development Y chromosome required for development of testes
Embryo gonads indifferent at 2 months SRY gene: sex-determining region of Y Codes for protein that regulates other genes
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Linked genes: located on same chromosome and tend to be inherited together during cell division
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Genetic Recombination: production of offspring with new combo of genes from parents
Unlinked genes: follow law of independent assortment 50% frequency of recombination observed for any 2 genes on different chromosomes
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Crossing over: explains why some linked genes get separated during meiosis
the further apart 2 genes on same chromosome, the higher the probability of crossing over and the higher the recombination frequency
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Geneticists can use recombination data to map a chromosome's genetic loci
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Linkage Map: genetic map that is based on % of cross-over events
1 map unit = 1% recombination frequency Express relative distances along chromosome 50% = far apart on same chromosome or on different chromosomes
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Nondisjunction: chromosomes fail to separate properly in Meiosis I or Meiosis II
Aneuploidy: incorrect # chromosomes Monosomy (1x) or Trisomy (3x) Polyploidy: 2+ complete sets of chromosomes; 3n or 4n Rare in animals, frequent in plants A tetraploid mammal. Scientists think this species may have arisen when an ancestor doubled its chromosome # by errors in mitosis or meiosis.
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Nondisjunction
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The structure of an individual chromosome can be altered during DNA replication
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Karyotyping can detect nondisjunctions.
Down Syndrome = Trisomy 21
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Karyotyping can detect nondisjunctions.
Klinefelters Syndrome: 47XYY, 47XXY
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Karyotyping can detect nondisjunctions.
Turners Syndrome = 45XO
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Extranuclear Genes Some genes located in organelles
Mitochondria, chloroplasts, plastids Contain small circular DNA Do not display Mendelian inheritance Mitochondria = maternal inheritance (eggs) Variegated (striped or spotted) leaves result from mutations in pigment genes in plastids, which generally are inherited from the maternal parent.
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