genetics

Question 1

example of a point mutation

Answer 1

sickle cell anemia

Question 2

example of a trinucleotide repeat

Answer 2

fragile X syndrome

Question 3

incomplete penetrance

Answer 3

person has mutated gene but does not express it phenotypically

Question 4

variable expressivity

Answer 4

Trait is seen phenotypically in the individuals having the mutant gene but is expressed differently among individual

Question 5

de novo mutation

Answer 5

Affected individuals may not have affected parents because their disease arose from a new mutation =

Question 6

autosomal recessive inheritance pattern?

Answer 6

horizontal

Question 7

autosomal recessive characteristics

Answer 7

25% chance of getting it, need both recessive alleles
carriers dont show clinical manifestations but may have lower levels of the defective enzyme or protein. age of onset is earlier in life.

Question 8

Unfavorable lyonization

Answer 8

refers to inactivation of an abnormally high percentage of normal X chromosomes, leading to clinical evidence of the disease in a heterozygote.

Question 9

example of x linked dominant disease

Answer 9

Example: Oral-Facial-Digital syndrome (OFD) type I

Question 10

Marfan Syndrome

Answer 10

Autosomal dominant disorder of connective tissue due mutation of the FBN1 gene, resulting in abnormal fibrillin
arachnodactyly

Question 11

Ehlers-Danlos Syndromes

Answer 11

problems with collagen.
Hyperextensible skin and hypermobile joints
Skin fragility and delayed wound healing
Rupture of colon, large arteries
Hernias

Question 12

Mutations in Receptor Proteins

Answer 12

Familial Hypercholesterolemia

Question 13

Diseases Caused by Mutations in Enzyme Proteins

Answer 13

Phenylketonuria

Lysosomal Storage Diseases

Question 14

Lysosomal Storage Diseases

Answer 14

Tay-Sachs disease
Niemann-Pick disease
Gaucher disease
Mucopolysaccharidoses