chromosomal patterns of inheritance
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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