Biochem

Question 1

including intellectual disability, eczema, fair skin, and musty body odor.

Answer 1

PKU

Question 2

Pleiotropy examples

Answer 2

PKU
CF
Marfan

Question 3

one single gene mutation contributes to multiple phenotypic effects.

Answer 3

Pleiotropy

Question 4

both alleles are expressed in heterozygosity

Answer 4

codominance

Question 5

codominance example

Answer 5

• ABO blood types
• Alpha 1 anti
• HLA

Question 6

different mutations within the same gene produce the same phenotype.

Answer 6

Allelic heterogeneity

Question 7

Allelic heterogeneity example

Answer 7

beta-thalassemia

Cystic fibrosis

Question 8

mutations in different genes produce the same phenotype.

Answer 8

Locus heterogeneity

Question 9

Locus heterogeneity examples

Answer 9

retinitis pigmentosa (RP)

Question 10

distinct cell lines within the same individual, typically resulting from a mitotic error

Answer 10

Mosaicism

Question 11

somatic mosaicism (herencia)

Answer 11

cannot pass the mutation to their offspring

Question 12

gonadal mosaicism (herencia)

Answer 12

can pass the mutation to their offspring

Question 13

The same genotype, having varying degrees of phenotype

Answer 13

Variable expressivity

Question 14

The same genotype, may or may not produce a phenotype

Answer 14

Incomplete penetrance

Question 15

Increased severity and earlier onset in succeeding generation

Answer 15

Anticipation

Question 16

Disease severity depends on the proportion of mutated mtDNA, used in mitochondrial disease

Answer 16

Heteroplasmy