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Cytogenetics > Lesson 1 : Introduction to Genetics and Cytogenetics > Flashcards

Lesson 1 : Introduction to Genetics and Cytogenetics Flashcards

1
Q

What is Genetics?

A

Is the study of inherited traits, rooted in DNA, and their variations and transmission.

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2
Q

Transmission of traits and biological information between generations.

A

Heredity

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3
Q

Inherited Traits

A
  • Obvious physical characteristics
  • Disease and risk of developing disease
  • Talents
  • Quirks
  • Personality traits
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4
Q

Are biochemical instructions that tell cells how to manufacture certain proteins.

A

Genes

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5
Q

What does DNA stand for?

A

Deoxyribonucleic Acid

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6
Q

Purpose of DNA

A

Transmits information in its sequence of four types of building blocks (Adenine, Thymine, Cytosine, Guanine)

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7
Q

If RNA, replace thymine with ______________

A

uracil

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8
Q

Constituted by a complete set of genetic instructions and characteristics of an organism, including protein-coding genes and other DNA sequences

A

Genome

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9
Q

What is Genomics

A

field that analyze and compare genomes

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10
Q

What is Exome

A

Tiny slice of the genome responsible for many aspects

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11
Q

About ___________________ genes accounting to _____% genome

A

20,325 & 85%

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12
Q

Total Exons of the Genome

A

Exome

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13
Q

Coding Region

A

Exons

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14
Q

What is Exons

A

type of genes that transcribe into mRNA

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15
Q

The complete set of genetic instructions which is stored as genes or sequences of DNA in a particular organism or species is known as the ____________.

A

Genome

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16
Q

A subset of the genome which only consists of the coding genes of a particular organism is known as the _________.

A

exome

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17
Q

The genome is large, about _________________ nucleotides.

A

3 200 000 000

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18
Q

The exome is small, about ___________ nucleotides (__% of the genome).

A

3 000 000 , 1%

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19
Q

Genomes are composed of _____________ including both ___________ and ______________.

A

total DNA content, coding and noncoding regions

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20
Q

Exome contains only _____________ of the _________________ as ____________.

A

coding regions, total DNA known, exons

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21
Q

__________ methods such as _______________________ can be used in sequencing the genome.

A

Simple, Sanger sequencing

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22
Q

___________ methods which include _________________ are required to sequence exome.

A

Complex, reverse transcription of mature mRNA

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23
Q

Levels of Genetics

A
  1. Instructions and information from DNA
  2. Genes
  3. Chromosomes
  4. Genomes
  5. Individuals
  6. Families
  7. Populations
24
Q

Components of DNA

A
  • Phosphate
  • Sugar (deoxyribose)
  • Base pair (Adenine-Thymine, Cytosine-Guanine)
25
Q

Applications of Genetics and Genomics

A

Human Genetics
- Forensics
- Bioethics
- Psychology
- History

Consumer Genetics
- Pharmacogenomics

Genetic Genealogy
- Forensics and Ancestry

26
Q

Compares DNA sequences of individuals to rule out identities, relationships, or ancestry, and can reveal if two individuals are related.

A

DNA Profiling

27
Q

Considers gene variants to predict whether a specific drug will be effective or cause side effects in an individual

A

Pharmacogenetics

28
Q

Pharmacokinetics

A
  • body to drug
  • Absorption, Distribution, Metabolism, Elimination (ADME)
29
Q

Pharmacodynamic

A
  • drug to body
  • altering the body’s sensitivity to drug
30
Q

What is Genome Editing

A

Adds, removes, or replaces specific genes

31
Q

Historical Development

19th century

A

the universality of cell division as the central phenomenon in the reproduction of organisms was established.

32
Q

expressed it in the famous aphorism “Omnis cellula e cellula.” (all cells come from cells)

A

Virchow

33
Q

stated, “Heredity appears as a consequence of the genetic continuity of the cells by division.”

A

Wilson

34
Q

Observations on the germ cells made by _____________, ___________,_______________,___________ and others gave support to the theory of the continuity of the ____________ proposed by ____________ in _________.

A

Van Beneden, Flemming, Strasburger, Boveri,
germplasm
Weismann in 1883

35
Q

This theory stated that the transference of hereditary factors from one generation to the next takes place through the continuity of what he called ‘_____________,’ located on the _______________, and not through ________________.

A

germ plasm, sex elements, somatic cells.

36
Q

Little attention was paid to Mendel’s work until the botanists _______________,______________, and ___________ in ____________ independently rediscovered Mendel’s laws.

A

Correns, Tschermack, De Vries
1901

37
Q

In addition, cytologists had observed that the cycle the chromosomes undergo in the _____________ of germ cells was related to _______________ _____________.

A

meiosis, hereditary phenomena

38
Q

_________________ suggested that sex determination was related to some special chromosomes; this theory was later corroborated by _______________ and ____________.

A

McClung (1901- 1902)
Stevens and Wilson (1905)

39
Q

The experimental demonstration of the chromosome theory of heredity was finally established by _______________ and ____________, but it was ____________ and his collaborators, _______________, and ___________, who assigned to the genes (Johannsen), or hereditary units, definite loci within the chromosomes

A

Boveri and Baltzer
Morgan
Sturtevant, and Bridges

40
Q

discovery of fertilization of animals by plants

A

O. Hertwig

41
Q

postulated that chromatin , the substance of the nucleus that constitutes the chromosome must have linear organization

A

Roux

42
Q
A
43
Q

stated that the hereditary units are disposed along the chromosomes in an orderly manner

A

Weismann

43
Q

What is Molecular genetics

A

Understand how the genetic material works at the molecular level.

43
Q

Fundamental laws of heredity

A

Gregor Mendel (1865)

44
Q

What does CRISPR stand for

A

Clustered
Regularly
Interpreted
Short
Palindromic
Repeats

44
Q

What is Adaptive immunity

A

immunity acquired from exposure to an antigen.

44
Q

experimental research on genetics and evolution

A

Bateson (1906)

44
Q

Is the study of chromosomes and the related disease states caused by abnormal chromosome number and/or structure.

A

Cytogenetics

44
Q

What is Transmission Genetics

A

Relationship between the transmission of genes from to offspring and the outcome of the offspring’s traits.

44
Q

What is Population Genetics

A

Helps understand how processes such as natural selection have resulted in the prevalence of individuals that carry particular alleles.

44
Q

Define the ff

CYTOLOGY
GENETICS

A
  • study of cells
  • study of heredity
44
Q
  • genome editing technology
  • part of prokaryotic adaptive immunity
A

CRISPR-Cas9 System

45
Q

found in S. pyogenes

A

Cas9

45
Q

Spacers

A

bits of DNA that are foreign, originate from mobile genetic elements

45
Q

Chromosome

A

23 pairs of somatic chromosomes (22 pairs of autosomes , 1 pair of sex chromosomes)

Cytogenetics (4 decks)

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