Genetic Disorders

Question 1

Genotype

Answer 1

Genetic information carried by the individual

Question 2

Phenotype

Answer 2

Expression of genes

Appearance of individual characteristics

Question 3

Allele

Answer 3

One of two genes for same trait positioned at same locus on chromosome
(dominant>allele)

Question 4

Autosomal Recessive Disorders

Answer 4

Both parents must pass on the allele for the disorder

Question 5

Autosome Recessive Examples

Answer 5

CF
Sickle cell
Phenylketonuria
Glycogen Storage Disorder

Question 6

Autosomal Dominant Disorders

Answer 6

Inheritance of one allele causes disorder

Only one parent needs to carry allele

Question 7

Autosomal Dominant Examples

Answer 7

Adult Polycystic Kidney Disease
Huntington’s
Marfan’s Syndrom

Question 8

X-Linked Disorders: Recessive

Answer 8

Males affected because they lack matching unaffected allele on Y chromosome
Females can be carriers or affected

Question 9

X-Linked Disorders: Dominant

Answer 9

Males and heterozygous females affected

Question 10

X-Linked Recessive Examples

Answer 10

Duchenne’s

Hemophilia A

Question 11

X-Linked Dominant Examples

Answer 11

Fragile X Syndrome