Genetics Flashcards

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1
Q

define gene

A

a heritable factor that controls a specific characteristic

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2
Q

what is a plasmid

A

small circular piece of DNA in the cytoplasm

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3
Q

homologous chromosome

A

carry the same sequence of genes but not necessarily the same allele

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4
Q

which chromosome determine gender

A

sex chromosomes

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5
Q

what chromosomes do not determine the sex of an organism

A

autosomes

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6
Q

what is a locus

A

specific spot on a chromosome that is occupied by that gene

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7
Q

how are new alleles formed

A

mutations

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8
Q

define genome

A

the whole of the genetic information of an organism

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9
Q

define genome size

A

total length of dna in an organism including all the non-coding sequences

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10
Q

what did the human genome project do

A

determined the entire base sequence of all the human chromosomes

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11
Q

what were the outcomes of the human genome project

A
  • imporved knowledge of how human genes function
  • improved diagnosis of genetic diseases
  • increased potential for gene therapy
  • increased potential to design drug to combat genetic malfunctions
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12
Q

what causes sickle cell anaemia

A

a base subtitution mutation - mutation in one of the two haemoglobin genes

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13
Q

what causes sickle cell anaemia

A

a base subtitution mutation - mutation in one of the two haemoglobin genes
- amino acid glutamic acid is replaced by valine

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14
Q

what was cairns technique used for

A

measuring DNA molecules

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15
Q

what are mutagens

A

chemicals that cause gene mutations

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16
Q

what is a tendem repeat

A

short sequence of bases in the DNA that are repeated

17
Q

how are segments of tandem repeats extracted

A

using restriction endonuclease enzymes

18
Q

outline PCR

A
  • polymerase chain reaction
  • copies and amplifies minute quantities of DNA
  • only specific parts of the DNA are amplified
  • this is done by adding specific primers to the complementary regions of DNA
  • DNA can be used for profiling using gel electrophoresis
19
Q

what are the 2 stages of PCR

A
  • dna heated to seperate strands and primers are added

- dna taq polymerase and dNTPs added to build new strand

20
Q

outline gel electrophoresis

A

-PCR is used to amplify the amount of DNA
-the DNA is cut into fragments using restriction endonucleases
the fragments have a small negative charge due to phosphate group
they will move through a gel towards a positive electrode
the smaller the fragment the further it will move
the DNA bands are stained
used for DNA profiling

21
Q

outline DNA profiling

A

PCR
Gel electrophoresis
Bands of DNA are compared

22
Q

uses of DNA profiling

A

paternity test
forensic investigations
family relationships for immigrants

23
Q

what are the key requirements for the production of insulin using gene transfer

A
  • the insulin gene
  • a plasmid
  • a host bacterium
  • four enzymes: reverse transcriptase, DNA polymerase, a restriction endonuclease, DNA ligase
24
Q

process of production of human insluin using gene transfer

A
  • remove plasmid from bacterium
  • cut with specific restriction endonuclease to produce sticky ends
  • add insuling gene, join loose ends with ligase
  • insert into bacterium
25
Q

process of production of human insluin using gene transfer

A
  • remove plasmid from bacterium
  • cut with specific restriction endonuclease to produce sticky ends
  • add insuling gene, join loose ends with ligase
  • insert into bacterium
  • bacterium clonned and cultures in large vat
  • flitered and purified - human insulin is extracted
26
Q

what are the female chromosomes

A

XX

27
Q

what are the male chromosomes

A

XY

28
Q

where are sex linked genes found

A

only on the X chromosome

29
Q

which parent determines the gender of the offspring and why

A

male

because they produce X and Y sperm whereas females can only produce X eggs

30
Q

what are the three alleles of blood type

A

Ia, Ib and i

31
Q

what are the three alleles of blood type and which of these are dominant

A

Ia, Ib and i

Ia and Ib and dominant

32
Q

what is codominance

A

when you have two different alleles of the same gene and they are both dominant