Test 2

Question 1

Dbp 5

Answer 1

Protein that removes NXF1 and NXT1 from the mRNA after it is transported out of the nucleus into the cytoplasm

Question 2

Exportin

Answer 2

Protein required for export of proteins out of the nucleus

Question 3

Importin

Answer 3

Protein required for import of proteins into the nucleus

Question 4

GAP

Answer 4

GTPase-activating protein, cytoplasmic protein that is required to hydrolyze GTP to GDP on Ran

Question 5

GEF

Answer 5

Guanine nucleotide exchange factor, nuclear protein that replaces GDP with GTP on Ran in the nucleus

Question 6

Lamin

Answer 6

Intermediate filament protein found in the nucleus

Question 7

NES

Answer 7

Nuclear export signal, leucine rich aa sequence that binds to exportin

Question 8

NLS

Answer 8

Nuclear localization sequence, basic aa rich sequence (lys, arg) that binds to importin

Question 9

NPC

Answer 9

Nuclear pore complex

Question 10

Nucleoporins

Answer 10

Family of proteins that form the NPC

Question 11

NXF1/NXT1

Answer 11

Proteins that bind to mRNAs in nucleus and transport them into the cytoplasm

Question 12

Ran

Answer 12

Small GTP-binding protein that acts to transport proteins in and out of the nucleus, depending on whether it is bound to GTP or GDP

Question 13

Cytogenetics

Answer 13

The study of chromosome structure and identification of microscopically visible abnormalities. Examination of the ordered array of chromosomes or karyotype

Question 14

Molecular genetics

Answer 14

The study of the sructure and function of genes; includes gene mapping and recombinant DNA based technologies

Question 15

Biochemical genetics

Answer 15

How genetic defects disrupt normal metabolism/cell control mechanisms; this knowledge is necessary to design the rational treatment of disease

Question 16

Population genetics

Answer 16

The study of how allele frequencies increase, decrease or stay the same in a population. Allele frequencies are needed in some risk determinations

Question 17

Clinical genetics

Answer 17

Diagnosis/detection of inherited disorders; treatment/management; risk assessment; genetic counseling; and pharmacogenomices

Question 18

Pharmacogenomics

Answer 18

The study of the role of inherited and acquired genetic variation in drug response

Question 19

Law of segregation

Answer 19

The pair of factors that determine the nature of a particular trait are segregated. In modern terms, this law refers to the separation into different gametes and thence into different offspring of the two members of each pair of alleles possessed by the diploid parental organism

Question 20

Allele

Answer 20

Alternative forms for a given gene. Homozygous-2 alleles same. Heterozygous- 2 alleles different

Question 21

Codominance

Answer 21

Alleles are codominant if each is expressed independently of the presence of the other (A and B in blood typing)

Question 22

Law of independent assortment

Answer 22

The members of different pairs of factors assort independently. A restatement of the law in modern terms is that the members of different pairs of alleles are assorted independently into gametes during game to genesis, and that subsequent pairing of male and female gametes is random

Question 23

Epistasis

Answer 23

The situation in which one gene masks the expression of another

Question 24

Linkage

Answer 24

The greater association in inheritance of two or more nonallelic genes than is to be expected from independent assortment

Question 25

Genomic imprinting

Answer 25

The phenomenon whereby the degree to which a gene expresses itself depends upon the parent transmitting it

Question 26

Mitochondria1 inheritance

Answer 26

The inheritance of a trait encoded in the mitochondrial genome

Question 27

Germinal mosaicism

Answer 27

When an individual is composed of two or more cell lines in their germ cell population, where the cell lines are of different genetic or chromosomal constitution

Question 28

Inherited

Answer 28

Vertical transmission of the disease

Question 29

Genetic

Answer 29

A gene or chromosome is involved in the susceptibility to or cause of the disease

Question 30

Sporadic

Answer 30

Indicates no evidence for vertical transmission or familial clustering exists

Question 31

Congenital

Answer 31

Present at birth

Question 32

Familial

Answer 32

A trait or disorder tends to cluster in families

Question 33

Fragile sites

Answer 33

Non staining gaps, occasionally observed in characteristic sites on several chromosomes. Such fragile sites are inherited in a Mendelian codominant fashion and exhibit fragility as shown by the production of a centric fragments and chromosome deletions.

Question 34

Genetics

Answer 34

The study of the transmission of heritable traits and the origins of variation in these traits in all living organisms

Question 35

Human genetics

Answer 35

Science of variation and heredity in humans

Question 36

Medical genetics

Answer 36

Study of human genetic variation of medical significance

Question 37

Heteroplasmy

Answer 37

One cell contains multiple types mitochondrial DNA with varying levels of each from one cell to the next