Genetics PEdegree 11-22

Question 1

Basic unit of inheritance

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

Allen

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

Identical alleles at a single locus

Answer 6

Homozygous

Question 7

Different alleles at a single locus

Answer 7

Heterozygous

Question 8

A condition seen in both the homozygous and the heterozygote; only on copy of the mutant allele is necessary for phenotypic expression

Answer 8

Dominant

Question 9

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

Answer 9

Recessive

Question 10

Are dominant and recessive about phenotype or genotype

Answer 10

Phenotypic expression

Question 11

A nonsex chromosome

Humans have 22

Answer 11

Autosome

Question 12

X or Y chromosome

Answer 12

Sex chromosome

Question 13

Two copies of each chromosome

Answer 13

Diploid

Question 14

All cells in the body except gamaetes

-always diploid

Answer 14

Somatic cells

Question 15

Sperm or egg cells, always haploid

Answer 15

Gametes

Question 16

What are the major types of genetic disease

Answer 16

• single gene disorders
• chromosome abnormalities
• multifactorial traits

Question 17

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 17

Single gene disorders

Question 18

How are single gene disorders usually transmitted as?

Answer 18

• autosomal dominant
• autosomal recessive
• X linked

Question 19

What are other names for single gene disorders

Answer 19

-mendelian disorders or monogenic disorders

Question 20

Deviation from the normal chromosome number or structure

Answer 20

Chromosome abnormalities

Question 21

Combined effects of multiple genetic and non genetic influences

Answer 21

Multifactorial traits

Question 22

What is the most significant type of genetic disease in gene pool?

Answer 22

Single gene disorders

Question 23

What is least likely to have serious consequences in pedigree?

Answer 23

Multifactorial traits

Question 24

A disease or condition that is present at birth. Can be either hereditary or acquired

Answer 24

Congenital

Question 25

_____ is expected likelihood of genetic defect at time of conception

Answer 25

8%

Question 26

What is responsible for about 50% of spontaneous abortions?

Answer 26

Chromosomal abnormalities

Question 27

A few cases of chromosomal abnormalities show what?

Answer 27

No obvious symptoms

Question 28

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

Answer 28

60%

Question 29

If there is a recessive disorder, it is usually _________ in nature.

Answer 29

Functional

Question 30

If there is a dominant disorder, it is usually ________ in nature

Answer 30

Structural

Question 31

How many alleles are needed for an autosomal dominant disease to be expressed?

Answer 31

Only one mutant allele

Question 32

A person with an autosomal dominant disorder has to have at least _________

Answer 32

One affected parent

Question 33

Autosomal dominant disorders and sex

Answer 33

Both sexes can be affected, so male-to-male transmission can occur

Question 34

What do autosomal dominant disorders usually involve?

Answer 34

Non-catalytic proteins

Question 35

What are some autosomal dominant disorders?

Answer 35

• familial hypercholesterolemia
• Huntington’s disease
• myotonic disease
• neurofibromatosis type 1
• osteogenesis imperfecta
• Marfan syndrome

Question 36

Probability that offspring of a couple will have the genetic disease

Answer 36

Recurrent risk

-each reproductive event is statistically independent of all previous events

Question 37

In autosomal dominant disorders the _________ is the mutant allele

Answer 37

Dominant allele