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MBS 601 > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

What is genetics

A

The study of inherited traits and their variations and transmission.

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2
Q

Heredity

A

The transmission of traits and biological information between generations via genes.

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3
Q

Genes

A

Biochemical instructions which tell cells how to manufacture certain proteins. The basic units of heredity.

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4
Q

Genome

A

The complete set of genetic material for an organism, including non protein coding genes. Most cells contain 2 copies of the genome

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5
Q

Exome

A

The 1% of the genome that codes for proteins. Roughly 20,325 genes are in the exome and most disease-causing genes lie within the exome.

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6
Q

Traits

A

Physical characteristics which are produced by an interaction of genes and your environment.

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7
Q

Alleles

A

A form of a gene with a slight variation in the resultant protein.

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8
Q

Gene variants

A

Undetectable genetic mutations which do not alter protein function.

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9
Q

Mendelian trait

A

A trait that is determined by a single gene

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10
Q

Complex trait

A

Traits that are determined by one or more genes and environmental factors.

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11
Q

Levels of genetics

A

DNA - genes - chromosomes - genomes - individuals - families - populations

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12
Q

Define: 9q21.11

A

9= chromosme, q=long arm, 21=region, 1= band, 1=subband

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13
Q

Genome annotation

A

The process of marking all the genes in a genome and ascribing functions to each

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14
Q

Locus

A

The site of a gene within the genome

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15
Q

Null mutation

A

Loss-of-function mutation which completely abolishes the activity of a gene

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16
Q

Genetic population

A

A large collection of alleles, distinguished by frequency/

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17
Q

Why is it important that cells divide

A

So that organisms can grow and replace dead cells

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18
Q

Cyclin proteins

A

Cells release cycins to tell other cells when to start or stop dividing. Triggered by cell geometry, contact with borders, or cellular concentrations.

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19
Q

G1 phase

A

Following mitosis, cells continue synthesizing proteins, lipids, and carbs.

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20
Q

DNA damage checkpoint

A

During S phase, the cell cycle will pause while proteins will repair the damaged DNA

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21
Q

Apoptosis checkpoint

A

Before mitosis, if there is not enough survivin protein accumulation, the cells will die

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22
Q

Telomeres

A

Chromosome tips which shorten to tell a cell how many cell divisions remain within the lifetime. Telomerase preserves the length of telomeres in gametes and cancer cells.

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23
Q

G2 phase

A

The mitotic machinery is incorporated into the cell. This includes: centromeres, centrioles, microtubule assembly, and the mitotic spindle.

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24
Q

How do chromosomes move during anaphase?

A

The enzymatic degradation of cohesin, the protein that links sister chromatids together, coupled with changes in microtubule length.

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25
Q

Propidium iodide staining

A

Stains chromosomes to identify the stage of the cell cycle. The intensity of the staining is proportional to the amount of DNA (ploidy)

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26
Q

Endoreduplicaiton

A

Increase in cell size without cytokinesis. Endocycled cells proceed directly from G2 to G1 and endomitotic cells go through mitosis but never undergo cytokinesis.

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27
Q

2 Major goals of meiosis

A

Reduce the number of chromosomes by half and to introduce diversity of DNA into the population

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28
Q

Meiosis 1

A

REDUCTIVE DIVISION - 2n to n

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29
Q

Meiosis II

A

EQUATIONAL DIVISION - goes from 2 cells to 4

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30
Q

Crossing over

A

ONLY occur in Prophase 1 during homolog pairing

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31
Q

Prophase I phases

A

Lengthy zooms produces drowsy dudes
Leptotene Zygotene Pachytene Diplotene and Diakinesis
*crossing over occurs in the middle

32
Q

Mendelian trait

A

A trait controlled by a single locus/gene

33
Q

Elmenten

A

Mendel’s word for hereditary material (i.e: DNA/genes)

34
Q

Law of segregation

A

Alleles for each gene segregate randomly during Meiosis

35
Q

Compound heterozygotes

A

Different mutant allele combinations due to many variants of a gene

36
Q

Epistasis

A

One gene affects the expression of a second gene (ex: bombay h protein)

37
Q

Penetrance Vs. Expressivity

A

Penetrance = whether or not the phenotype emerges with corresponding genotypes

Expressivity = the varying degrees of phenotype severity

38
Q

Pleiotropy

A

One gene has several functions and therefore one mutation can have several different phenotypic effects

39
Q

Phenocopy

A

Trait that appears inherited but is caused by the environment

40
Q

Genetic heterogeneity

A

Different genes can produce identical phenotype

41
Q

Pseudoautosomal regions

A

X and Y chromosome regions with genes that require 2 copies (alleles) and are found on both types of chromosomes. At the point of crossing over

42
Q

Why are Y-linked traits rare?

A

Because there are very few total genes on the Y chromosome

43
Q

Fun facts about mitochondrial DNA

A

Has a high mutation rate, circular, and high exposure to free radicals

44
Q

X-inactivation

A

Balances the inequality of X gene expression in females

45
Q

Lyon hypothesis

A

X-inactivation happens randomly during prenatal development, so you have random tissue regions with maternal X and those with paternal X. Creating mosaic

46
Q

Genomic imprinting

A

Autosomal gene expression that is dependent upon the parent that the alleles are inherited from.

47
Q

Uniparental Disomy

A

Rare inheritance of two chromosomes from the same parent. Due to nondisjunction in the same chromosome or trisomy followed by chromosome loss

48
Q

Cytogenics

A

The study of chromosomal structure

49
Q

During what phase are chromosomes the most condensed?

A

Mitotic metaphase

50
Q

Kinetochore

A

Mediates the attachment of spindle apparatus during chromosome migration

51
Q

Ideograms

A

Black and white diagrams of a chromosome with G bands

52
Q

FISH

A

DNA probes labeled with fluorescent dye. Helps to distinguish individual chromosomes and individual genes. Can tell you the number of chromosomes

53
Q

What does this represent: t(7;9)(p21.1;q34.1)

A

A translocation from chromosome 7 to chromosome 9

54
Q

Chromothripsis

A

One or more chromosomes shatter - often results in loss of function

55
Q

Causes of polyploidy abnormality

A

Multiple fertilizations or diploid gamete

56
Q

Reciprocal translocation

A

Nonhomologous chromosomes exchange segments and have a normal amount of genetic material (often aphenotypical)

57
Q

Robertsonian translocation

A

Nonhomologous acrocentric chromosomes break at the centromere so the two arms fuse together and create one large chromosome

58
Q

Isochromosomes

A

Centromeres divide along the incorrect plane, so there are duplicate arms on the same chromosome

59
Q

Ring chromosomes

A

Telomeres are lost and the sticky ends fuse together into a ring

60
Q

Cri-du-chat

A

Caused by 5p arm deletion

61
Q

Down syndrome

A

Trisomy 21

62
Q

Edwards syndrome

A

Trisomy 18

63
Q

Patau syndrome

A

Trisomy 13

64
Q

Turner Syndrome

A

single X females

65
Q

Klinefelter Syndrome

A

XXY males

66
Q

Jacobs Syndrome

A

XYY males, most have normal phenotype

67
Q

XXYY syndrome

A

Severe behavioral problems, infertility, treated with testosterone

68
Q

Copy number variant

A

Deletion or duplicaiton of a 1 Kb+ DNA segment

69
Q

Charcot-Marie-Tooth

A

Motor and sensory neuropathy diseases caused by CNV

70
Q

Comparative Genomic Hybridization (CGH)

A

Staining technique for gene regions. Tells you how many copies of the gene you have for each chromosome pair

71
Q

Mutational hot spots

A

Locations on genes where mutations are likely to occur. Typically on non-canonical DNA structures, such as palindromes and inverted repeats

72
Q

Transition substitution

A

Purine is changed to another purine or pyrimidine to pyrimidine

73
Q

Transversion substitution

A

Purine replaces pyrimidine or vice versa

74
Q

Phenylketonuria (PKU)

A

New drugs called PALYNZIQ is modified phenylalanine lyase, preventing build-up

75
Q

Spinal muscular atrophy (SMA)

A

Splicing out of exon 7 can be fixed with antisense oligonucleotides or exogenous delivery of the SMN protein

76
Q

Heteroplasmy

A

The presence of multiple mitochondrial DNA types distributed randomly into daughter cells

MBS 601 (4 decks)

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