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Lecture 3 Flashcards

1
Q

What are non-germinal cells?

A

Diploid (46 chromosomes, paired)

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2
Q

Germinal cells

A

Haploid (Sperm/ovum cells, 23 chromosomes, no pairs)

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3
Q

Aneuploidy

A

Extra/missing chromosomes (ex. down syndrome an extra chromosome creating the 21st trisomy)

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4
Q

Phenotype

A

Expressed traits derived from genotype

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5
Q

Genotype

A

The genetic constitution of an individual organism

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6
Q

In what state(s) is the dominant gene expressed?

A

Homozygous or heterozygous state

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7
Q

In what state(s) is the recessive gene expressed?

A

Homozygous only

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8
Q

Codominant gene

A

Both alleles of a pair are expressed (creates a ‘mix’ therefore, both genes are expressed)

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9
Q

Sex-linked gene

A

Genes carried on sex chromosomes produced sex-linked traits (X or Y)

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10
Q

Epigenetics

A

How behaviours and environments can change gene expression (activate, amplify, repress gene expression, increase risk of disease)

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11
Q

What are factors that can affect epigenetics

A

Diet, obesity, physical activity, smoking, alcohol consumption, environmental pollutants, psychological stress, depression, shift work,

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12
Q

X inactivation/Lyonization

A

Only one of the two X chromosomes in females is genetically active (lost later in cell development)

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13
Q

Barr body/sex chromatin body

A

Inactive X chromosome

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14
Q

Karyotype

A

Chromosomes analysis to study the composition and abnormalities in chromosomes by their number and structure.

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15
Q

Chromosomes

A

Double coils of DNA combined with proteins which exist in pairs (23 pairs in humans, 22 autosomes and 1 sex chromosomes)

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16
Q

Nucleotide

A

The basic structural unit of DNA, that form nitrogen-containing bases(C, G, A, T)

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17
Q

Purines

A

Adenine, Guanine

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18
Q

Pyrimidine

A

Thymine, Cytosine

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19
Q

Replication of DNA

A

The original chain is used as a template for the synthesis of the new chain; forms 2 double strands (new strand + old strand)

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20
Q

How was DNA replicated?

A

Semi-conservative replication (chains separate and act as templates for copies to form 2 new identical strands of DNA)

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21
Q

DNA to protein cycle

A

Transcription of DNA to mRNA in the nucleus. mRNA is processed by removing the non-coding (introns) and splicing coding regions (exons). In the ER the mRNA undergoes translation for protein formation in ribosomes by rRNA. tRNA transfers anticodons to the mRNA Codons to produce proteins.

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22
Q

True or False: Mitochondria has its own DNA?

A

True, small amounts of circular DNA (some code of ATP-generating enzymes)

23
Q

True or False: Sperm has more mitochondria than human ova?

A

False, human ova has serval mitochondria whereas sperm contain very few (most mitochondrial disease come from the ova, only inherit mitochondrial DNA from mothers)

24
Q

Symptoms of mitochondrial disease

A

Poor growth, Muscle weakness, low muscle tone, vision and/or hearing problems, learning disabilities, delays in development, autism-like features, heart or liver diseases

25
What cells use Mitosis as a method of cell division?
Somatic cells (cardiac, skeletal, nerve, connective tissue, liver, blood-forming cells)
26
What cells use Meiosis as a method of cell division?
Germ cells (genetic material to be sex cells)
27
Which mature cells cannot divide and reform
Cardiac, skeletal muscle, and nerve cells
28
Sequence of mitosis
Prophase, Metaphase, Anaphase, Telophase
29
Sequence of meiosis
The first meiotic division reduces the number of chromosomes by half (daughter cells only receive only half of the chromosomes from parent cells). The second meiotic division is similar to mitosis but each cell only contains 23 chromosomes
30
Gametogenesis
Forming gametes (mature germ cells)
31
Gonads
Testes and ovaries; capable of developing into mature sperm or ova
32
Spermatogenesis
Development of sperm (starting with 46 chromosomes and dividing into 23 chromosomes to form 4 sperm per one precursor cell)
33
Spermatogonia
Precursor cells in the testicular tubes
34
Oogenesis
Development of ova (one ovum formed per one precursor cell, the rest are polar bodies)
35
Oogoina
Precursor cells in a female fetus
36
Monosomy
Absence of a chromosome in a cell
37
Trisomy
Presence of an extra chromosome in a cell
38
Deletion
Chromosome breaks during meiosis and the broken pieces are lost
39
Translocation
Misplaced chromosome, or part of it, attaches to another chromosome (can cause miscarriage)
40
Nondisjunction in Meiosis
Having a missing or extra pair of chromosomes in the first or second meiotic division
41
Turner Syndrome
One X chromosome; sterile
42
Triple X Syndrome
Three X chromosomes; 2 Barr bodies; fertile
43
Klinefelter Syndrome
Two X and one Y chromosomes; male; 1 Barr body and Y fluorescent body; sterile
44
XYY Syndrome
One X and two Y; 2 Y Fluorescent bodies; fertile
45
Fragile X syndrome
An abnormal X chromosome near its tip, causes mental deficiency, high number of CGG sequences in DNA chains; passed on by mothers to their daughters and sons and by fathers to their daughters
46
Down Syndrome
Trisomy of chromosome 21 by nondisjunction or translocation; developmental disabilities, cardiac malformation, major defects in other organ systems; mostly seen in births by older women
47
Mutation
Permanent change in genetic material that may occur spontaneously or after exposure of a cell to radiation, chemicals, or viruses
48
Single nucleotide polymorphisms (SNPs)
The most common type of genetic variation among people. SNP represents a difference in a nucleotide. ex. It may replace a nucleotide cytosine with thymine (How people can react differently to the same things, ex. some people can metabolize alcohol better than others)
49
Recombinant DNA technology
Joining together of DNA molecules from two different species to produce a new genetic combination (removal or addition of gene)
50
Gene therapy
Using genes to treat or prevent disease (cells are removed, treated, and reinfused) . In the future genes can be inserted into the patient's cells for treatment
51
Bioinformatics
Improved sequencing technologies and a better understanding of genes. Allows sequencing of the human genome in a matter of days for hundreds of dollars
52
Personalized therapy
Using genetic code to create treatments for illnesses to specifically/uniquely treat that person.
53
Eugenics
The study of how to arrange reproduction to allow the increase of favourable traits expressed in the human population

HSS 3305 (21 decks)

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