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Slide4]
Modern Understandings of Inheritance
Modern Understandings of Inheritance
Chromosomal Theory and Genetic Linkage
Chromosomal Basis of Inherited Disorders
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Slide5Chromosomal Theory of Inheritance
Genetic Linkage and Distances
Identification of Chromosomes and Karyotypes Chromosomal Theory and Genetic Linkage
Modern Understandings of Inheritance
>
Chromosomal Theory and Genetic Linkage
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Slide6Disorders in Chromosome Number
Chromosomal Structural Rearrangements
X-Inactivation Chromosomal Basis of Inherited Disorders
Modern Understandings of Inheritance
>
Chromosomal Basis of Inherited Disorders
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Appendix
Slide8Key terms
aneuploidy the state of possessing a chromosome number that is not an exact multiple of the haploid numberautosome
any chromosome other than sex chromosomesautosome any chromosome other than sex chromosomesBarr body a sex chromosome inactivated by packing in heterochromatin
dosage compensation a genetic regulatory mechanism that equalizes the phenotypic expression of characteristics determined by genes on the X chromosome so that they are equally expressed in males and females.hemizygous having some single copies of genes in an otherwise diploid cell or organismhomologous recombination a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical molecules of DNAinversion a segment of DNA in the context of a chromosome that is reversed in orientation relative to a reference karyotype or genome
karyotype the observed characteristics (number, type, shape etc) of the chromosomes of an individual or specieslinkage
the property of genes of being inherited togethernondisjunction the failure of chromosome pairs to separate properly during meiosissynapsis
the association of homologous maternal and paternal chromosomes during the initial part of meiosis
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Modern Understandings of Inheritance
Slide9translocation
a transfer of a chromosomal segment to a new position, especially on a nonhomologous chromosometranslocation a transfer of a chromosomal segment to a new position, especially on a nonhomologous chromosome
wild type the typical form of an organism, strain, gene or characteristic as it occurs in natureX inactivation a process by which one of the two copies of the X chromosome present in female mammals is inactivated
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Modern Understandings of Inheritance
Slide10Reciprocal translocations do not involve loss of genetic information
A reciprocal translocation occurs when a segment of DNA is transferred from one chromosome to another, nonhomologous chromosome.
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OpenStax CNX.
"OpenStax College, Chromosomal Basis of Inherited Disorders. October 16, 2013."
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Modern Understandings of Inheritance
Slide11Inheritance Patterns of Unlinked and Linked Genes
In (a), two genes are located on different chromosomes so independent assortment occurs during meiosis. The offspring have an equal chance of being the parental type (inheriting the same combination of traits as the parents) or a nonparental type (inheriting a different combination of traits than the parents). In (b), two genes are very close together on the same chromosome so that no crossing over occurs between them. The genes are, therefore, always inherited together and all of the offspring are the parental type. In (c), two genes are far apart on the chromosome such that crossing over occurs during every meiotic event. The recombination frequency will be the same as if the genes were on separate chromosomes. (d) The actual recombination frequency of fruit fly wing length and body color that Thomas Morgan observed in 1912 was 17 percent. A crossover frequency between 0 percent and 50 percent indicates that the genes are on the same chromosome and crossover occurs some of the time.
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OpenStax CNX.
"OpenStax College, Chromosomal Theory and Genetic Linkage October 16, 2013."
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Modern Understandings of Inheritance
Slide12Sutton and Boveri
(a) Walter Sutton and (b) Theodor Boveri are credited with developing the Chromosomal Theory of Inheritance, which states that chromosomes carry the unit of heredity (genes).
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OpenStax CNX.
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Modern Understandings of Inheritance
Slide13Inversion heterozygotes
When one chromosome undergoes an inversion, but the other does not, one chromosome must form an inverted loop to retain point-for-point interaction during synapsis. This inversion pairing is essential to maintaining gene alignment during meiosis and to allow for recombination.
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Modern Understandings of Inheritance
Slide14Genetic Maps
This genetic map orders Drosophila genes on the basis of recombination frequency.
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OpenStax CNX.
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Modern Understandings of Inheritance
Slide15Nondisjunction in Meiosis
Nondisjunction occurs when homologous chromosomes or sister chromatids fail to separate during meiosis, resulting in an abnormal chromosome number. Nondisjunction may occur during meiosis I or meiosis II.
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OpenStax CNX.
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Modern Understandings of Inheritance
Slide16A human karyotype
This karyotype is of a male human. Notice that homologous chromosomes are the same size, and have the same centromere positions and banding patterns. A human female would have an XX chromosome pair instead of the XY pair shown.
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Wikipedia.
"NHGRI human male karyotype."
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Modern Understandings of Inheritance
Slide17Eye Color in Fruit Flies
In Drosophila, the gene for eye color is located on the X chromosome. Red eye color is wild type and is dominant to white eye color.
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OpenStax CNX.
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Modern Understandings of Inheritance
Slide18Sex Chromosome Nondisjunction
The symptoms of Klinefelter's syndrome (XXY) in a human male.
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Wikimedia.
"Klinefelter's syndrome."
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Modern Understandings of Inheritance
Slide19Inversions can be pericentric or paracentric
Pericentric inversions include the centromere, and paracentric inversions do not. A pericentric inversion can change the relative lengths of the chromosome arms; a paracentric inversion cannot.
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OpenStax CNX.
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Modern Understandings of Inheritance
Slide20Cri-du-chat Syndrome
This individual with cri-du-chat syndrome is shown at two, four, nine, and 12 years of age.
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Modern Understandings of Inheritance
Slide21Attribution
Wiktionary.
"wild type." CC BY-SA 3.0 http://en.wiktionary.org/wiki/wild_type
Wiktionary. "hemizygous." CC BY-SA 3.0 http://en.wiktionary.org/wiki/hemizygous
Wiktionary.
"autosome." CC BY-SA 3.0
http://en.wiktionary.org/wiki/autosome
OpenStax CNX. "Robert Bear and David Rintoul, Extensions of the Laws of Inheritance. October 31, 2013." CC BY 3.0
http://cnx.org/content/m47304/latest/
Wikibooks.
"Structural Biochemistry/Chromosomes."
CC BY-SA 3.0
http://en.wikibooks.org/wiki/Structural_Biochemistry/Chromosomes
OpenStax CNX.
"OpenStax College, Biology. October 16, 2013." CC BY 3.0 http://cnx.org/content/m44481/latest/?collection=col11448/latestWiktionary.
"synapsis." CC BY-SA 3.0
http://en.wiktionary.org/wiki/synapsisWiktionary.
"linkage." CC BY-SA 3.0 http://en.wiktionary.org/wiki/linkage
Wikipedia. "homologous recombination." CC BY-SA 3.0
http://en.wikipedia.org/wiki/homologous%20recombinationOpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0 http://cnx.org/content/m44481/latest/?collection=col11448/latest
Wiktionary. "translocation." CC BY-SA 3.0
http://en.wiktionary.org/wiki/translocation
Wiktionary.
"autosome."
CC BY-SA 3.0
http://en.wiktionary.org/wiki/autosome
Wiktionary.
"karyotype."
CC BY-SA 3.0
http://en.wiktionary.org/wiki/karyotype
OpenStax CNX.
"OpenStax College, Biology. October 16, 2013."
CC BY 3.0
http://cnx.org/content/m44483/latest/?collection=col11448/latest
Wiktionary.
"nondisjunction."
CC BY-SA 3.0
http://en.wiktionary.org/wiki/nondisjunction
Wiktionary.
"aneuploidy."
CC BY-SA 3.0
http://en.wiktionary.org/wiki/aneuploidy
Wikibooks.
"Structural Biochemistry/Chromosomes."
CC BY-SA 3.0
http://en.wikibooks.org/wiki/Structural_Biochemistry/Chromosomes
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Modern Understandings of Inheritance
Slide22OpenStax CNX.
"OpenStax College, Biology. October 16, 2013."
CC BY 3.0 http://cnx.org/content/m44483/latest/?collection=col11448/latest
Wiktionary. "Barr body." CC BY-SA 3.0 http://en.wiktionary.org/wiki/Barr_body
Wikipedia.
"dosage compensation." CC BY-SA 3.0
http://en.wikipedia.org/wiki/dosage%20compensation
Wiktionary. "X inactivation." CC BY-SA 3.0 http://en.wiktionary.org/wiki/X+inactivation
OpenStax CNX.
"OpenStax College, Biology. October 22, 2013."
CC BY 3.0
http://cnx.org/content/m44483/latest/?collection=col11448/latest
OpenStax CNX.
"OpenStax College, Biology. October 16, 2013."
CC BY 3.0 http://cnx.org/content/m44483/latest/?collection=col11448/latestWiktionary.
"translocation." CC BY-SA 3.0
http://en.wiktionary.org/wiki/translocationWiktionary.
"inversion." CC BY-SA 3.0 http://en.wiktionary.org/wiki/inversion
OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44483/latest/?collection=col11448/latest
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Modern Understandings of Inheritance