Genetics exam 2

Question 1

Genomics

Answer 1

Branch of molecular biology concerned with the structure, function, evolution,and mapping of genomes

Question 2

Comparative genomics

Answer 2

The science of comparison of genomic features among organisms bc all genomes presumably arose from a common ancestral genome, relationships between genomes help to ID significance of those features and help determine genotype - phenotype relationships

Question 3

Paleosequencing

Answer 3

The study of the past (evolutionary history) through the examination of preserved genetic material from the remains of ancient organisms

Question 4

Synthetic genomics

Answer 4

Uses aspects of genetic modification on pre-existing life forms or artificial gene synthesis to create new DNA/chromosomes or entire life forms

Question 5

Mass spectrometry

Answer 5

An analytical technique that ionizes chemical species and sorts the ions based on their mass-to-charge ratio.

Question 6

Interactome

Answer 6

The whole set of molecular interactions in a particular cell. Specifically refers to the physical interactions among molecules but can also describe sets of indirect interactions among genes

Question 7

Developmental genetics

Answer 7

Study of regulatory processes that control cell growth, differentiation, and morphogenesis which is the process that gives rise to tissues, organs, and anatomy. Used to study cell fate, cell determination and differentiation and pattern formation

Question 8

Determination

Answer 8

Process by which a cell or part of an embryo becomes restricted to a given developmental pathway

Question 9

Differentiation

Answer 9

The process by which a cell becomes dedicated to perform a specific fxn. More than 250 general types of cells in the human body. Process that takes place during development that determines which genres are expressed and hence what type of cell will result

Question 10

Totipotency

Answer 10

Ability of a single cell to divide and produce ALL of the differentiated cells in an organism

Question 11

Pleuripotency

Answer 11

The ability of a single cell to divide and produce some but not all types of differentiated cells in an organism

Question 12

Unipotent

Answer 12

The ability of a single cell to divide and produce a single kind of differentiated cell in an organism

Question 13

Gap gened

Answer 13

Delete groups of adjacent segments

Question 14

Pair-rule genes

Answer 14

Delete same part of pattern in every other segment

Question 15

Segment polarity genes

Answer 15

Affect polarity of segment part of segment replaced by mirror image of part of another segment

Question 16

Homeobox containing genes

Answer 16

Genes that contain a highly conserved sequence of 180 nucleotides called the homeobox which encodes for the 60 AA homeodomain found in homeodomain txn factor proteins

Play a major role in vertebrates with regard to craniotomy-caudal segmentation, not only among main body axis but w/in the development of many organs
Activated in 3–>5 direction
Loss of function mutations result in posterior to anterior transformation
Gain of function result in anterior to posterior transformations

Question 17

T box genes

Answer 17

Containe conserved T-box coding 180-200 AA, family includes up to 100 genes, plays role in inducing mesodermal germ layer and in coordinating the outgrowth of the arm or leg

Question 18

Helix-loop-helix

Answer 18

Code for txn factor, basic regions of proteins bind to DNA, involved in homeodimerization and heterodimerization, important in myogenesis

Question 19

Forkhead (fox) genes

Answer 19

The of helix-loop-helix family, expressed in many developing organs throughout the body

Question 20

Heterotaxy syndrome

Answer 20

Refers to the lack of differentiation of right-sided and left-sided organs during fetal development

Question 21

Hardy Weinberg assumptions

Answer 21

1. Large population
2. Random mating’
3. No mutations
4. No migration
5. No natural selection

Question 22

Positive assortative mating

Answer 22

A tendency of like individuals to mate

Question 23

Negative assortative mating

Answer 23

A tendency of unlike individuals to mate

Question 24

Natural selection

Answer 24

The differential survival and reproduction of individuals due to differences in phenotype

Question 25

Migration

Answer 25

Movement of populations, groups or individuals. Enable gene flow- the movement of genes from one population into another

Question 26

Genetic drift

Answer 26

Change in frequency of gene varian in a population due to random sampling of organisms

Question 27

Centriole

Answer 27

A small, cylindrical cell organelle located near the nucleus in the cytoplasm of most eukaryotic cells that divides in perpendicular fashion during mitosis

Question 28

Nucleosome

Answer 28

Basic unit of DNA packaging in eukaryotes consisting of a segment of DNA wound in sequence around 8 core his tone proteins

Question 29

Chromatosome

Answer 29

A hi stone octamer, one molecule of linker hi stone, and 166bp DNA. The linker histone is a binding agent acting like a finger holding down the DNA preventing its release

Question 30

Epigenetics

Answer 30

A heritable alteration of phenotype because of altered chromatin structure (histone modification, acetylation) or the modification of DNA (methylation) without changing the DNA sequence

Question 31

Leigh syndrome

Answer 31

Degeneration of the CNS— loss of fxn of mitochondria typically don’t make it to adulthood

Question 32

Reading frame

Answer 32

3 ways in which the sequence can be read in groups of 3. Each different way of reading encodes a different amino acid sequence

Question 33

Translation

Answer 33

Binding of AA to tRNA- charging Initiation of translation Elongation of peptide chain Termination

Question 34

Operon

Answer 34

Promoter + additional sequences that control txn + structural genes

Question 35

Somatic mutations

Answer 35

Arise in tissues other than those that produce gametes, impact restricted to the individual

Question 36

Germ-line mutations

Answer 36

Arise in tissues that produce gametes | Can be passed to offspring

Question 37

Loss of function metatio

Answer 37

Causes the complete or partial absence of a normal protein fxn Usually reessive

Question 38

Neutral mutation

Answer 38

Missense mutation that alters the AA sequence but does not change the fxn of the protein

Question 39

Silent mutation

Answer 39

Mutation changes the codon sequence but not the AA

Question 40

Missense mutation

Answer 40

Base substitution that results in a different AA

Question 41

Nonsense mutation

Answer 41

Mutation that changes a sense codon into a STOP codon

Question 42

Forward mutation

Answer 42

Mutation that alters the wild-type phenotype

Question 43

Reverse mutation

Answer 43

Mutation that changes the mutant phenotype back into the wild-type

Question 44

Gain of function

Answer 44

Produces an entirely new trait or causes it to appear in an inappropriate tissue or at an inappropriate time

Question 45

Suppressor mutation

Answer 45

Genetic changes that hides or suppresses the effect of another mutation Intragenic: occurs in same gene as that containing the mutation being suppressed Intergenic: occurs in gene other than the one bearing the original mutation

Question 46

Retrotransposons

Answer 46

Elements that transpose through an RNA intermediate RNA is transcribed from a DNA transposable elements RNA is copied back to another DNA a site using reverse transcriptase Only done through replicative transposition More common than DNA transposing in eukaryotes