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CYTOGENETICS > 1 - MOLECULAR BASIS OF GENETICS > Flashcards

1 - MOLECULAR BASIS OF GENETICS Flashcards

1
Q
  • Study of inherited traits, rooted in DNA, and their variations and transmission
  • Started from plant breeding experiments
  • Has evolved to become a major medical discipline
A

Genetics

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2
Q

Transmission of traits and biological information between generations

A

Heredity

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3
Q
  • Functions as the units of heredity in that copies of genes are passed from one generation to the next
  • Consists of the long molecule DNA
A

Genes

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4
Q

People performed selective breeding of good traits and characteristics of animals they herded and domesticated. What animals are these?

A

Horses

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5
Q

Important Events in Genetic History

  • People performed selective breeding of good traits and characteristics of animals they herded and domesticated
  • Later on was used in improving the quality of crops as well
A

8000-1000 BC

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6
Q

8000-1000 BC

Father of Medicine proposed that invisible seeds found in the male semen serve as the bearers of the hereditary traits

A

Hippocrates

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7
Q

8000-1000 BC

  • Argued that the blood contained materials for building all parts of the body
  • He believed that the semen was purified blood
  • Further argued that some seeds from the blood would not appear until later in life
A

Aristotle

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8
Q

18th Century

believed that miniature humans were found in the head of sperm cells called homunculus

A

Concept of Preformation

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9
Q

18th Century

confirmed that all organisms were derived from cell

A

Cell Theory

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10
Q

18th Century

  • Proposed the theory of natural selection
  • Stated that the best adapted characteristics of parents are those that get carried over to their children
  • Overtime, these new characteristics combined leading to the birth of a new species
A

Charles Darwin

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11
Q

1865

experimented with pea plants and established basic rules of heredity and made him “Father of Modern Genetics”

A

Gregor Mendel

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12
Q

1944

confirmed that it was DNA that carried the genetic information

A

Avery

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13
Q

1953

discovered the double helix structure of DNA

A

Watson and Crick

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14
Q

1956

Diploid number of chromosomes was identified as?

A

46 chromosomes

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15
Q

1956

Haploid number of chromosomes was identified as?

A

23 chromosomes

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16
Q

1959

  • Showed that Down Syndrome is a chromosomal abnormality
  • First identification of the genetic basis of a disease
A

J. Lejenne

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17
Q

1975

This allowed the detection of specific DNA sequences

A

Southern blot

18
Q

1977

developed the chain termination method for sequencing DNA

A

Fred Sanger

19
Q

1983

Localization of Huntington’s disease

A

chromosome 4

20
Q

1985

developed the PCR which provided a rapid way to make many copies of DNA molecules

A

Mullis & co-workers

21
Q

1989

identified as the gene causative for cystic fibrosis when mutated

A

Cystic fibrosis transmembrane conductance regulator gene on chromosome 7

22
Q

1990

  • $3 billion, 15-year project with the goal to sequence the human genome
  • The endgame of the project was to determine the genres associated to diseases and predict and possible diseases in the future
A

Human Genome Project

23
Q

Formed by linking multiple nucleotides

24
Q

Basic unit of the DNA

A

Nucleotides

25
Q

Components of nucleotides

A

Nitrogenous base
Sugar
Phosphate

26
Q

6-membered ring containing 2 nitrogens

A

Pyrimidines

27
Q

9-membered ring consisting of 2 rings

28
Q

Types of Pyrimidines

A

Cytosine
Uracil
Thymine

29
Q

Types of Purines

A

Adenine
Guanine

30
Q

5 membered rings of sugar

31
Q

2 types of sugars

A

Ribose
Deoxyribose

32
Q

Components of nucleoside

A

Sugar
Nitrogenous base

33
Q
  • Forms the backbone of the DNA
  • One chain runs in 5’ to 3’ direction while the other is 3’ to 5’
34
Q
  • Bond that holds the different nucleotides together
  • Links the 3’ carbon of one sugar to the 5’ carbon of the next sugar
A

Phosphodiester bonds

35
Q

Formation of protein from DNA

A

Central Dogma

36
Q
  • First step in gene replication
  • Because the DNA is too big to exit the nucleus, a small copy of it must be created and exits to the cytoplasm
  • A DNA strand molecule splits by the help of RNA polymerase enzyme
  • Nucleotides complementary to the template strand are formed on the RNA
A

Transcription

37
Q
  • The mRNA is translated to synthesize proteins
  • Each amino acid is formed by 3 nitrogenous bases
  • In the cell cytoplasm, the ribosome reads the sequence of the RNA in groups of three bases
  • An anticodon or complementary codon is matched to the RNA coding for a specific amino acid
A

Translation

38
Q

start codon

A

AUG (methionine)

39
Q

stop codons

A

UAA, UGA, UAG

40
Q

The process of forming more copies of DNA

A

Replication

41
Q

separates DNA strands

CYTOGENETICS (11 decks)

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