Patterns of chromosome inheritance
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Patterns of Chromosome Inheritance. Chapter 24. Karyotyping. Karyotype Size-ordered chart of the metaphase chromosomes of an individual cell Chromosomal aberration A mutation that is large enough to see under a light microscope. Amniocentesis. Chorionic villi sampling.

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Karyotyping

  • Karyotype

    • Size-ordered chart of the metaphase chromosomes of an individualcell

  • Chromosomal aberration

    • A mutation that is large enough to see under a light microscope






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Changes in Chromosome Number

  • Nondisjunction

  • Result after fertilization:

    • Trisomy

    • Monosomy





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Changes in Sex Chromosome Number

  • Y chromosome-determines maleness.

  • SRY gene produces a testis-determining factor

  • Caused by non-disjunction


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Non-disjunction in Sex Chromosomes

Y chromosome-determines maleness.

Results of non-disjunction?:

XXX

XXY

XYY

X0

0Y

Survivable with problems

Survivable with problems

Survivable with problems

Survivable with problems

Lethal


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Non-disjunction in Sex Chromosomes

  • Turner Syndrome --XO

  • Klinefelter Syndrome—XXY

  • Poly-X Females---XXX

  • Jacobs Syndrome---XYY


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Changes in Chromosome Structure

  • Mutation– a permanent genetic change.

  • Chromosome mutation--change in chromosome structure.

  • Types:

    • Inversion

    • Translocation

    • Deletion

    • Duplication







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Sex-Linked Traits

  • Traits controlled by genes on the X or Y chromosomes are sex-linked although most are unrelated to gender.

  • An allele on the X chromosome that is in the region where the Y chromosome has no alleles will express even if recessive; it is termed X-linked.

  • A female would have to have two recessive genes to express the trait; a male would only need one.


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X-Linked Alleles

  • The key for an X-linked problem shows the allele attached to the X as in:

  • XB = normal vision

  • Xb = color blindness.

  • Females with the genotype XBXb are carriers because they appear to be normal but each son has a 50% chance of being color blind depending on which allele the son receives.

  • XbXb and XbY are both colorblind.




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X-Linked Disorders

  • Red-green color blindness

  • Muscular dystrophy.

  • Hemophilia.


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http://perth.uwlax.edu/faculty/howard/BIO101/DNA&translation/sld002.htmhttp://perth.uwlax.edu/faculty/howard/BIO101/DNA&translation/sld002.htm


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Dianahttp://perth.uwlax.edu/faculty/howard/BIO101/DNA&translation/sld002.htm

http://brie.medlabscience.med.ualberta.ca/de/genetics/70gen-hemophil.html


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Chapter Summaryhttp://perth.uwlax.edu/faculty/howard/BIO101/DNA&translation/sld002.htm

  • Humans - 22 pairs of autosomes and one pair of sex chromosomes

  • Abnormalities of chromosome number or composition.

  • Males - XY

  • Females -XX.

  • Chromosomal mutations

  • Sex-linked traits


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