chromosomal patterns of inheritance

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    Mader: Biology 8th Ed.

    Chromosomal Patterns of Inheritance

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    Outline

    X-Linked Alleles Human X-Linked Disorders

    Gene Linkage

    Crossing-Over Chromosome Map

    Changes in Chromosome Number

    Changes in Chromosome Structure

    Human Syndromes

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    Chromosomal Inheritance

    All but one pair of chromosomes in malesand females are the same.

    Autosomes - Nonsex chromosomes

    The different pair, sex chromosomes,determines the sex of an individual.

    X-linked (sex-linked) is the term used for

    genes carried on the X chromosome.

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    X-Linked Alleles

    X-linked alleles have a different pattern ofinheritance than alleles on autosomesbecause the Y chromosome is blank forthese alleles.

    Inheritance of a Y chromosome cannotoffset the inheritance of an X-linkedrecessive allele.

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    Drosophila

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    Human X-Linked Disorders

    Color Blindness In humans, color vision receptors in the

    retina are three different classes of conecells.

    Only one type of pigment is present ineach class of cone cell.

    The allele for blue-sensitive is

    autosomal, but the red- and green-sensitive proteins are on the Xchromosome.

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    Human X-Linked Disorders

    Muscular Dystrophy Absence of protein dystrophin allows

    calcium to leak into muscle cells.

    Hemophilia Hemophilia A due to lack of clotting factor

    IX and hemophilia B due to lack of clotting

    factor VIII.

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    Hemophilia Pedigree

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    Gene Linkage

    The existence of several alleles on the samechromosome.

    Alleles on the same chromosome form a

    linkage group because they tend to beinherited together.

    Can be used to build a linkage map.

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    Constructing a Chromosome Map

    A linkage map can also be called achromosome map because it tells the orderof gene loci on chromosomes.

    If crossing-over occurs between twolinked alleles of interest, a dihybridproduces four types of gametes instead oftwo.

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    Crossing-Over

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    Linkage Data

    The percentage of recombinant phenotypescan be used to map chromosomes because

    there is a direct relationship between thefrequency of crossing-over and the distance

    between alleles.

    Assumed 1% crossing-over equals 1 mapunit.

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    Changes in Chromosome Number

    Polyploidy Occurs when eukaryotes have more than

    2n number of chromosomes.

    Named according to number of sets ofchromosomes.

    Major evolutionary force in plants.

    Some estimate 47% of floweringplants are polyploids.

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    Changes in Chromosome Number

    Monosomy and Trisomy Monosomy (2n - 1) occurs when an

    individual has only one of a particular type

    of chromosome. Trisomy (2n + 1) occurs when an

    individual has three of a particular type of

    chromosome.

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    Down Syndrome

    Down syndrome (Trisomy 21) is caused by

    three copies of chromosome 21.

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    Changes in Sex Chromosome Number

    An abnormal sex chromosome number isthe result of inheriting too many or too few Xor Y chromosomes.

    Nondisjunction during oogenesis orspermatogenesis.

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    Sex Chromosome Syndromes

    Turner Klinefelter

    (XO) (XXY)

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    Sex Chromosome Syndromes

    Poly-X Females

    More than two X chromosomes and extraBarr bodies in the nucleus.

    Range from tall and thin to tall and

    severely retarded depending on numberof X chromosomes.

    Jacobs Syndrome

    XXY due to nondisjunction duringspermatogenesis.

    Taller than average

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    Changes in Chromosome Structure

    Deletion End of a chromosome breaks off, or two

    simultaneous breaks lead to loss of an

    internal segment. Translocation

    Movement of a chromosome segment

    from one chromosome to another, non-homologous chromosome.

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    Changes in Chromosome Structure

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    Changes in Chromosome Structure

    Duplication Presence of chromosomal segment more

    than once in the same chromosome.

    Known to occur as a result of aninversion in which segment is turned180o.

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    Changes in Chromosome Structure

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    Human Syndromes

    Deletion Syndromes

    Williams syndrome - Loss of segment of

    chromosome 7.

    Cri du chat syndrome (cats cry) - Loss ofsegment of chromosome 5.

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    Review

    X-Linked Alleles Human X-Linked Disorders

    Gene Linkage

    Crossing-Over Chromosome Map

    Changes in Chromosome Number

    Changes in Chromosome Structure

    Human Syndromes

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    M d Bi l 8th Ed