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Foundations of Medicine > Genetics > Flashcards

Genetics Flashcards

1
Q

What is genetics?

A

Genetics is the study of genes, genetic variation, and heredity in organisms.

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2
Q

Who is the Father of Genetics?

A

Gregor Mendel

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3
Q

What is Deoxyribose Nucleic Acid (DNA)?

A

It is the molecule that carries the genetic information for the development and functioning of an organism.

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4
Q

What is the DNA structure like?

A

It has a sugar-phosphate backbone and information contained in the sequence of bases.
The strands pair up in an antiparallel fashion.

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5
Q

DNA is replicated, and it is always read…

A

In the 5’ —-> 3’ direction

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6
Q

What does the double helix of DNA consist of?

A

Consists of two strands running in the opposite direction to each other.

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7
Q

What are the bonds formed between bases and what do they do?

A

Hydrogen bonds between the bases link the strands

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8
Q

What are the names of the bases?

A

Adenine – Thymine
Guanine – Cytosine

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9
Q

What are purines and two examples?

A

One of two chemical compounds cells use to make DNA and RNA building blocks.
-Adenine and Guanine

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10
Q

What are pyrimidines, and three examples?

A

A nitrogenous base similar to benzene (a six-membered ring)
-Thymine, Cytosine, and Uracil

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11
Q

What is RNA?

A

It stands for Ribonucleic Acid, and it is a single-stranded molecule.

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12
Q

What are the two main differences between RNA and DNA?

A
  • The sugar in the backbone is Ribose, instead of deoxyribose, and the base Uracil is used instead of Thymine.
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13
Q

How many bases does the human genome have, and how many encode for genes?

A

The human genome has approximately 3 billion bases, although only a small proportion of them (1-2%) encode genes.

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14
Q

What are histones?

A

A type of protein found in chromosomes. Histones bind to DNA, help give chromosomes their shape, and help control the activity of genes.

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15
Q

What does the structure of DNA with histones resemble?

A

A ball of string

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16
Q

What is the structure of histone, and what is its function?

A

Highly basic positively charged octamer. and it makes the DNA coil further to make the chromosomal structure.

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17
Q

What does condensation do to the DNA?

A

Condensation of DNA controls gene function. Tightly coiled DNA
(condensed) is less transcriptionally active.

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18
Q

What chromosomes are all present in the cells?

A

22 pairs of chromosomes and the sex chromosomes are present in each cell.

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19
Q

Define DNA replication

A

DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule.

20
Q

A DNA strand can be replicated in 2 directions, true or false?

A

False. A DNA strand can only be replicated in one direction.

21
Q

After the strands are separated and unwound, what happens to the leading and lagging strands?

A
  • The leading strand has bases added in the 5’ to 3’ direction by a DNA polymerase.
    -On the lagging strand, short stretches of DNA are synthesized as it unwinds (called Okazaki fragments), and these are then joined by
    a DNA ligase.
22
Q

What are Okazaki fragments?

A

Short sequences of DNA nucleotides are synthesized discontinuously and later linked together by the enzyme DNA ligase to create the lagging strand during DNA replication.

23
Q

What is Helicase?

A

DNA helicases catalyze the disruption of the hydrogen bonds that hold the two strands of double-stranded DNA together.

24
Q

What do the Primase, RNA primer, and DNA polymerase do?

A

Primase: Synthesizes RNA primers during DNA replication.
RNA primer: Primer RNA is RNA that initiates DNA synthesis.
DNA polymerase: Adds nucleotides to the three prime (3’)-ends of a DNA strand, one nucleotide at a time.

25
Q

What does ligase do?

A

Joins DNA fragments together, ‘the gluer’

26
Q

What enzyme prevents the supercoiling of DNA?

A

Topoisomerase.

27
Q

What are SSB proteins?

A

-Stands for single-stranded binding proteins.
These proteins bind to the DNA to prevent them from joining together again.

28
Q

What is mitosis, and what happens to one parent cell?

A

The process of somatic cell division. One parent cell
becomes two almost genetically identical daughter cells.

29
Q

What are the stages of mitosis?

A

Interphase.
Stage 1- Prophase
Stage 2- Metaphase
Stage 3- Anaphase
Stage 4- Telophase
Cytokinesis.

30
Q

What happens in the Interphase, and in what part of the cycle may the cell be found?

A

The cells look normal at this stage.
The cell may be in G0, G1, or S phase in the cell cycle.

31
Q

When is DNA replicated? (In what phase?)

A

S phase

32
Q

What happens in prophase?

A

In Prophase, the chromosomes condense and form part of the mitotic spindle.

33
Q

What happens in metaphase?

A

In Metaphase, the chromosomes line up in the center of the dividing cell. Microtubules are attached to each chromosome centromere.

34
Q

Draw the structure and name the three elements formed by microtubules.

A

Kinetochore, Microtubule and Centromere

35
Q

What happens in the anaphase?

A

At Anaphase, the duplicated chromosomes are separated by
contraction of the microtubules.

36
Q

What happens in telophase?

A

During Telophase, the chromosomes reach the poles of the cell, and the two cells separate (Cytokinesis). The chromosomes
decondense and form part of the nucleus once more.

37
Q

What is cytokinesis?

A

Cytokinesis is the physical process of cell division, which divides the cytoplasm of a parental cell into two daughter cells.

38
Q

What is meiosis?

A

Meiosis in humans only occurs during gamete production.

39
Q

What are the stages in meiosis I, and what happens in each?

A

Interphase: Cells are normal.
Prophase I: During Prophase in Meiosis I, homologous chromosomes pair, and there is a crossing over between the homologous chromatids.
Anaphase I: Chromosomes are pulled apart by the contraction of the microtubules.
Telophase I: Chromosomes reach the poles of the cell, and cytokinesis occurs.
Now you have two daughter cells.

40
Q

What happens in meiosis II?

A

In Meiosis II, the second round of cell division leaves four haploid
daughter cells.

41
Q

What are the stages of meiosis?

A

Prophase II
Metaphase II
Anaphase II
Telophase II
Daughter cells!

42
Q

What is the normal chromosome structure? Draw it and label it.

A

Telomere, Short Arm (p Arm), Centromere, Long arm (q Arm).

43
Q

What are sister chromatids?

A

Two chromatids held together

44
Q

What are the three types of chromosomes?

A
  1. Submetacentric: Superior ones are slightly smaller.
  2. Metacentric: telomere close to the middle, with a shorter “p”
    arm and longer “q” arm
  3. Acrocentric: centromere at one end, with only satellite DNA on the short “p” arm.
45
Q

What three things are chromosomes recognised by?

A

Their size, the position of the centromere and their banding pattern.

46
Q

What is banding??

A

Chromosome banding refers to alternating light and dark regions along the length of a chromosome, produced after staining with a dye.

47
Q

When are chromosomes visualized?

A

Metaphase

Foundations of Medicine (18 decks)

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