Principles Of Genetic Disease

Question 1

Frame shift mutations

Answer 1

Occur when nucleotides are added or subtracted in non multiples of 3

Question 2

Waardensburg Syndrome

Answer 2

AD 2q35 and is a TF

Deafness and pigmentation disturbance

Question 3

What are the most common transposon sequences

Answer 3

Alu sequences

Question 4

Disease caused by tandem repeat expansion

Answer 4

Huntington disease

Question 5

Loss of function

Answer 5

A change in a gene negatively affecting the amount of function of gene product

Question 6

Haploinsufficiency

Answer 6

50% not sufficient for normal function

Question 7

Gain of function

Answer 7

Change in a gene resulting in a gene product that is usually biologically harmful

Question 8

Dominant Negative

Answer 8

When the defective protein is not only nonfunctional but also inhibits function of the normal counterpart

Osteogenesis imperfecta

Question 9

Mutation

Answer 9

Any permanent change in the nucleotide sequence of a genome

Question 10

Polymorphism

Answer 10

A mutation that is relatively abundant Ina population

Question 11

Dosage sensitivity

Answer 11

The level of protein product produced by a gene can produce different phenotypes at various levels
CMT

Question 12

CMT

Answer 12

Hallmark is demyelination and inheritance is AD

Question 13

Duplication of PMP22

Answer 13

CMT type 1a

Question 14

Deletions of PMP22

Answer 14

HNPP

Question 15

Point mutation in PMP22

Answer 15

DSS

Question 16

Germaine mutation

Answer 16

Mutation that occurs in every cell in an individual and that was inherited from a parent

Question 17

Somatic Mutation

Answer 17

A utation only occurring in a subset of somatic cells

Question 18

Alleles Heterogeneity

Answer 18

Occurrence of more than one disease causing allele at a locus

Question 19

Locus heterogeneity

Answer 19

The association with more that one locus to a specific clinical phenotype

Question 20

Clinical heterogeneity

Answer 20

Variation in relation to presentation or treatment of a disease

Question 21

Modifier genes

Answer 21

Genes that affect the occurrence or severity of the phenotype associated with mutation in a non allelic gene