Introduction to Genetic DisordersProject

Background Information

The function of genes

Proteins help

To control the production of proteins in the organism's cells.

Determine the size, shape, and many other traits of organisms

The 4 different bases of DNA

Adenine - (A)

Thymine - (T)

Guanine - (G)

Cytosine - (C)

A single gene can contain

The order of the nitrogen bases

Several hundred to a million or more bases

Along a gene forms a genetic code that specifies what type of protein will be produced.

A mutation is

NOT

A mutation is

NOT

A mutation is

Any change in a gene or chromosome

Causes for a mutation

The Substitution of a single base for another

When chromosomes don't separate correctly during meiosis

If a mutation happens in a body cell, it will only affect

If a mutation happens in a sex cell, it can be

The cells that carries it(only that person)

Passed on to an offspring and affect the offspring phenotype

Some mutations are harmful, some are helpful some are neither

____________ nor ___________ Helpful harmful

Examples of mutations:

Skin cancer: Caused by

Bacteria: bacteria is able to build up a resistance to antibiotics (resistance is a mutation to help it survive)

Over exposure to the ultraviolet radiation in sunlight

Human Inheritance

______________ determines if a person is male or female.

What are the two chromosomes for a female?

What are the two chromosomes for a male?

Chromosomes

the egg in a female only carries the ____ chromosome.

The sperm in the male can carry the ______ or _____ chromosome.

X

YX

Looking at the Punnet Square, what is the probability that the couple will have a boy? A girl?

X Y

X

X

XX XY

XX XY

50/50

Human Genetic Disorders

A genetic disorder is

Genetic disorders are caused by

Abnormal condition that a person inherits through genes or chromosomes

Mutations or changes in a person's DNA

Cystic Fibrosis

Sickle-Cell

Hemophilia

Down Syndrome

Achondroplasia

Alpha-1 Antitrypsin Deficiency (AATD)

Charcot-Marie-Tooth

Duane SyndromeFamilial Hypercholesterolemia

Fragile X Syndrome Gaucher Disease

Hemochromatosis

Huntington’s Disease Klinefelter Syndrome

Marfan Syndrome Noonan Syndrome

Osteogenisis Imperfecta Phenylketonuria

Porphyria Progeria

Turner Syndrome WAGR Syndrome

Wilson Disease

What Questions do you Expect to Answer Through Research?

Types of Websites to Avoid

Sites that are too difficult to understandWikipedia – although much of the information is now considered to be accurate, it is a site that can be edited by anyone.

To begin:go to

www.genome.gov/10001204