Chapter 8.3 Human Genetic Disorders

Question 1

What is a genetic disorder?

Answer 1

Disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.

Question 2

What are the causes of genetic disorders?

Answer 2

1. Mutation in one gene
2. Mutation in multiple genes
3. By a combination of gene mutations and environmental factors
4. Damage to the chromosome (changes in number or structure)

Question 3

What is pedigree?

Answer 3

A diagram or family tree of inheritance used by geneticists to map genetic traits.

Question 4

What does a pedigree chart show?

Answer 4

It shows the relationship between family members and indicates which individuals expess or silently carry the trait in question.

Question 5

How is a male represented on a pedigree chart?

Answer 5

By a square

Question 6

How is a female represented on a pedigree chart?

Answer 6

By a circle

Question 7

What does a shaded box on a pedigree chart indicate?

Answer 7

That individual is affected by the trait being studied

Question 8

What does a slash through a circle or square on a pedigree chart indicate?

Answer 8

That individual is deceased

Question 9

How are different generations indicated on a pedigree chart?

Answer 9

By Roman Numerals

Question 10

What is a karyotype?

Answer 10

A photograph of a person’s chromosomes arranged in pairs which can reveal whether a person has the correct number of chromosomes.

A laboratory technique that produces an image of an individual’s chromosomes