Human

Genetics

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.

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.

X-linked Inheritance – When Men and Woman Play by Different Rules

Behind the 8-ball? Colorblindness is an X-linked recessive trait.

X-linked Inheritance

There are many X-linked recessive traits.

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).

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

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.

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).

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.

Chromosome Non-Disjunction in Meiosis Causes Aneuploidy

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.

Aneuploidy occurs when one of the chromosomes is present in an

abnormal number of copies.

Aneuploidy

Trisomy and monosomy are two forms of aneuploidy.

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).

The Frequency of Chromosome Non-Disjunction And Down

Syndrome Rises Sharply with Maternal Age

The phenomenon is clear – the explanation isn’t.

Patau

Syndrome

Edwards

Syndrome

Sex Chromosome Aneuploid Conditions are Common

Klinefelter syndrome

Turner

Syndrome

Klinefelter

syndrome

Jacob

Syndrome

Triple X

Syndrome

Turner

Syndrome Xo

There are 4 types of

chromosome structural change

– all of them associated with

human disorders

Chromosome Structural Changes

A Boy with Cri-du-Chat Syndrome – a Debilitating Disorder

Caused by Chromosome Deletion

Cri-du-Chat is Caused by the Loss of the Short Arm of One Copy

of Chromosome 5

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.

Polyploidy

Polyploidy occurs when all the chromosomes are present in three

or more copies.

Polyploidy is common in plants and rare in animals.

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.

Polyploidy is a Major Force in Plant Evolution

Roughly 35% of flowering plants (the most familiar plant

species) arose through polyploidization.

Most Crop Species are Polyploid

Polyploids, like the one on the left, are larger than their diploid

progenitors (strawberry on right).