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MBS 601 > Exam 1 > Flashcards

Exam 1 Flashcards

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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
Propidium iodide staining
Stains chromosomes to identify the stage of the cell cycle. The intensity of the staining is proportional to the amount of DNA (ploidy)
26
Endoreduplicaiton
Increase in cell size without cytokinesis. Endocycled cells proceed directly from G2 to G1 and endomitotic cells go through mitosis but never undergo cytokinesis.
27
2 Major goals of meiosis
Reduce the number of chromosomes by half and to introduce diversity of DNA into the population
28
Meiosis 1
REDUCTIVE DIVISION - 2n to n
29
Meiosis II
EQUATIONAL DIVISION - goes from 2 cells to 4
30
Crossing over
ONLY occur in Prophase 1 during homolog pairing
31
Prophase I phases
Lengthy zooms produces drowsy dudes Leptotene Zygotene Pachytene Diplotene and Diakinesis *crossing over occurs in the middle
32
Mendelian trait
A trait controlled by a single locus/gene
33
Elmenten
Mendel's word for hereditary material (i.e: DNA/genes)
34
Law of segregation
Alleles for each gene segregate randomly during Meiosis
35
Compound heterozygotes
Different mutant allele combinations due to many variants of a gene
36
Epistasis
One gene affects the expression of a second gene (ex: bombay h protein)
37
Penetrance Vs. Expressivity
Penetrance = whether or not the phenotype emerges with corresponding genotypes Expressivity = the varying degrees of phenotype severity
38
Pleiotropy
One gene has several functions and therefore one mutation can have several different phenotypic effects
39
Phenocopy
Trait that appears inherited but is caused by the environment
40
Genetic heterogeneity
Different genes can produce identical phenotype
41
Pseudoautosomal regions
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
Why are Y-linked traits rare?
Because there are very few total genes on the Y chromosome
43
Fun facts about mitochondrial DNA
Has a high mutation rate, circular, and high exposure to free radicals
44
X-inactivation
Balances the inequality of X gene expression in females
45
Lyon hypothesis
X-inactivation happens randomly during prenatal development, so you have random tissue regions with maternal X and those with paternal X. Creating mosaic
46
Genomic imprinting
Autosomal gene expression that is dependent upon the parent that the alleles are inherited from.
47
Uniparental Disomy
Rare inheritance of two chromosomes from the same parent. Due to nondisjunction in the same chromosome or trisomy followed by chromosome loss
48
Cytogenics
The study of chromosomal structure
49
During what phase are chromosomes the most condensed?
Mitotic metaphase
50
Kinetochore
Mediates the attachment of spindle apparatus during chromosome migration
51
Ideograms
Black and white diagrams of a chromosome with G bands
52
FISH
DNA probes labeled with fluorescent dye. Helps to distinguish individual chromosomes and individual genes. Can tell you the number of chromosomes
53
What does this represent: t(7;9)(p21.1;q34.1)
A translocation from chromosome 7 to chromosome 9
54
Chromothripsis
One or more chromosomes shatter - often results in loss of function
55
Causes of polyploidy abnormality
Multiple fertilizations or diploid gamete
56
Reciprocal translocation
Nonhomologous chromosomes exchange segments and have a normal amount of genetic material (often aphenotypical)
57
Robertsonian translocation
Nonhomologous acrocentric chromosomes break at the centromere so the two arms fuse together and create one large chromosome
58
Isochromosomes
Centromeres divide along the incorrect plane, so there are duplicate arms on the same chromosome
59
Ring chromosomes
Telomeres are lost and the sticky ends fuse together into a ring
60
Cri-du-chat
Caused by 5p arm deletion
61
Down syndrome
Trisomy 21
62
Edwards syndrome
Trisomy 18
63
Patau syndrome
Trisomy 13
64
Turner Syndrome
single X females
65
Klinefelter Syndrome
XXY males
66
Jacobs Syndrome
XYY males, most have normal phenotype
67
XXYY syndrome
Severe behavioral problems, infertility, treated with testosterone
68
Copy number variant
Deletion or duplicaiton of a 1 Kb+ DNA segment
69
Charcot-Marie-Tooth
Motor and sensory neuropathy diseases caused by CNV
70
Comparative Genomic Hybridization (CGH)
Staining technique for gene regions. Tells you how many copies of the gene you have for each chromosome pair
71
Mutational hot spots
Locations on genes where mutations are likely to occur. Typically on non-canonical DNA structures, such as palindromes and inverted repeats
72
Transition substitution
Purine is changed to another purine or pyrimidine to pyrimidine
73
Transversion substitution
Purine replaces pyrimidine or vice versa
74
Phenylketonuria (PKU)
New drugs called PALYNZIQ is modified phenylalanine lyase, preventing build-up
75
Spinal muscular atrophy (SMA)
Splicing out of exon 7 can be fixed with antisense oligonucleotides or exogenous delivery of the SMN protein
76
Heteroplasmy
The presence of multiple mitochondrial DNA types distributed randomly into daughter cells

MBS 601 (4 decks)

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