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EoM Dr. Green > Test 2 > Flashcards

Test 2 Flashcards

1
Q

Dbp 5

A

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

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2
Q

Exportin

A

Protein required for export of proteins out of the nucleus

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3
Q

Importin

A

Protein required for import of proteins into the nucleus

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4
Q

GAP

A

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

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5
Q

GEF

A

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

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6
Q

Lamin

A

Intermediate filament protein found in the nucleus

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7
Q

NES

A

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

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8
Q

NLS

A

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

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9
Q

NPC

A

Nuclear pore complex

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10
Q

Nucleoporins

A

Family of proteins that form the NPC

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11
Q

NXF1/NXT1

A

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

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12
Q

Ran

A

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

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13
Q

Cytogenetics

A

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

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14
Q

Molecular genetics

A

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

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15
Q

Biochemical genetics

A

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

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16
Q

Population genetics

A

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

17
Q

Clinical genetics

A

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

18
Q

Pharmacogenomics

A

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

19
Q

Law of segregation

A

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

20
Q

Allele

A

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

21
Q

Codominance

A

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

22
Q

Law of independent assortment

A

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

23
Q

Epistasis

A

The situation in which one gene masks the expression of another

24
Q

Linkage

A

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

25
Q

Genomic imprinting

A

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

26
Q

Mitochondria1 inheritance

A

The inheritance of a trait encoded in the mitochondrial genome

27
Q

Germinal mosaicism

A

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

28
Q

Inherited

A

Vertical transmission of the disease

29
Q

Genetic

A

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

30
Q

Sporadic

A

Indicates no evidence for vertical transmission or familial clustering exists

31
Q

Congenital

A

Present at birth

32
Q

Familial

A

A trait or disorder tends to cluster in families

33
Q

Fragile sites

A

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.

34
Q

Genetics

A

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

35
Q

Human genetics

A

Science of variation and heredity in humans

36
Q

Medical genetics

A

Study of human genetic variation of medical significance

37
Q

Heteroplasmy

A

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

EoM Dr. Green (4 decks)

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