human genetics. a pedigree of a recessive human trait note that the trait can appear in offspring of...
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Human Human GeneticsGenetics
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A Pedigree of a Recessive Human Trait
Note that the trait can appear in offspring of parents without the trait.
Heterozygotes who do not show the trait are termed carriers.
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A Pedigree of a Dominant Human Trait
Note that the trait appears in every generation and ½ the offspring of an affected heterozygote are expected to show the trait.
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X-linked Inheritance – When Men and Woman Play by Different Rules
Behind the 8-ball? Colorblindness is an X-linked recessive trait.
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X-linked Inheritance
There are many X-linked recessive traits.
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Pedigree Analysis is a Key Tool in Human Genetics
Analyzing a pedigree is like puzzle-building – you try things (assigning potential genotypes) until the pieces fit (you’re as certain as you can be about genotypes and modes of transmission (autosomal vs. X-linked; dominant vs. recessive).
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Lab Karyotyping
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd
http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
http://explorelearning.com
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Searching for Chromosomal Defects - Amniocentesis and Chorionic Villus Sampling
Many new techniques for learning about individual genes rather than whole chromosomes are available or under development.
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Searching for Chromosome and Gene Defects – Pre-Implantation Genetic Diagnosis (PGD)
Removing a cell for diagnosis from a human embryo.
The diagnosis: trisomy 21 (Down syndrome).
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Chromosomes and Inheritance
Since genes are carried on chromosomes, knowledge of chromosome number and structure has far-reaching implications for basic genetics, human health, and evolution.
A normal human male karyotype.
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Chromosome Non-Disjunction in Meiosis Causes Aneuploidy
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Changes in Chromosome Number and Structure
Changes in chromosome number and structure are important for health and evolution.
Down syndrome is caused by a change in chromosome number.
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Aneuploidy occurs when one of the chromosomes is present in an abnormal number of copies.
Aneuploidy
Trisomy and monosomy are two forms of aneuploidy.
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Down Syndrome is Caused by Trisomy for Chromosome 21
Aneuploidy is remarkably common, causing termination of at least 25% of human conceptions.
Aneuploidy is also a driving force in cancer progression (virtually all cancer cells are aneuploid).
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The Frequency of Chromosome Non-Disjunction And Down Syndrome Rises Sharply with Maternal Age
The phenomenon is clear – the explanation isn’t.
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Patau Syndrome
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Edwards Syndrome
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Sex Chromosome Aneuploid Conditions are Common
Klinefelter syndrome
Turner Syndrome
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Klinefelter syndrome
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Jacob Syndrome
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Triple X Syndrome
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Turner Syndrome Xo
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There are 4 types of chromosome structural change – all of them associated with human disorders
Chromosome Structural Changes
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A Boy with Cri-du-Chat Syndrome – a Debilitating Disorder Caused by Chromosome Deletion
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Cri-du-Chat is Caused by the Loss of the Short Arm of One Copy of Chromosome 5
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Translocations Lead to a Number of Human Cancers
In Burkitt’s lymphoma, a chromosome translocation
causes a cell cycle-promoting gene to always be active.
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Polyploidy
Polyploidy occurs when all the chromosomes are present in three or more copies.
Polyploidy is common in plants and rare in animals.
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Polyploids Are Created When Chromosome Number Doubles
A common way for this to occur is for the mitotic spindle to fail, leaving all chromosomes in one cell.
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Polyploidy is a Major Force in Plant Evolution
Roughly 35% of flowering plants (the most familiar plant species) arose through polyploidization.
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Most Crop Species are Polyploid
Polyploids, like the one on the left, are larger than their diploid progenitors (strawberry on right).
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