Genetics (Younger)

Question 1

Basic unit of inheritence

Answer 1

Gene

Question 2

The physical location of a gene on a chromosome

Answer 2

Locus

Question 3

Alternative forms of a gene at a given locus

Answer 3

Allele

Question 4

genetic constitution of an individual

Answer 4

Genotype

Question 5

Observed expression of a gene (physical manifestations) genotype plays a role (environment and other genes also play a role)

Answer 5

Phenotype

Question 6

You have 2 alleles at a single locus and they are identical

Answer 6

Homozygous

Question 7

You have 2 different alleles at a single locus

Answer 7

Heterozygous

Question 8

A condition seen in both the homozygote and the heterozygote; only one copy of the mutant allele is necessary for phenotypic expression.

Answer 8

Dominant

Question 9

A condition seen only in homozygote; requires two copies of the mutant allele for phenotypic expression.

Answer 9

Recessive

Question 10

A nonsex chromosome (humans have 22)

Answer 10

Autosomes

Question 11

X or Y chromosome

Answer 11

Sex chromosome

Question 12

2 copies of each chromosome

Answer 12

Diploid

Question 13

one copy of each chromosome

Answer 13

Haploid

Question 14

All cells in the body except gametes (these are always diploid)

Answer 14

Somatic cells

Question 15

Sperm or egg cells (always haploid)

Answer 15

Gametes

Question 16

Produced by the effect of a single gene (or gene pair) usually transmitted in simple patterns as autosomal dominant, autosomal recessive, or X-linked

Answer 16

Single gene disorders

Question 17

deviation from the normal chromosome number or structure

Answer 17

Chromosome abnormalities

Question 18

Combined effects of multiple genetic and non-genetic influences

Answer 18

Multifactorial traits

Question 19

A disease or condition that is present at birth, (can be either hereditary or acquired)

Answer 19

Congenital

Question 20

What percentage of the population will suffer from a disorder with a genetic component during their lifetime

Answer 20

60%

Question 21

Autosomal dominant disorders often involve catalytic or non-catalytic?

Answer 21

Most of the time, autosomal dominant disorders caused by potentially one allele, are involved with non-catalytic proteins.

Question 22

How many mutant alleles are needed for the disease to be expressed with autosomal dominant disorder?

Answer 22

Only one mutant allele needed

Question 23

Look at pedigree on slide 9…From this pedigree what is the genotype of the mother? Does the dad have a mutant allele?

Answer 23

She has just one mutant allele, because some of her kids don’t have the disease
No father does not have mutant allele

Question 24

Look at pedigree on slide 9…From this pedigree what is the genotype of the mother? Does the dad have a mutant allele?

Answer 24

She has just one mutant allele, because some of her kids don’t have the disease
No father does not have mutant allele

Question 25

What are some diseases that are considered autosomal dominant disease?

Answer 25

Familial hypercholesterolemia (LDL receptor deficiency)
Huntington disease (tri-nucleotide repeats)
Myotonic dystrophy (muscular atrophy and wasting)
Neurofibromatosis type 1 (nerve tissue tumor)
Osteogenesis imperfecta (collagen mutation)
Marfan syndrome (connective tissue defect)