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HL Bio > 3.1 genes > Flashcards

3.1 genes Flashcards

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Biology 101 flashcards
1
Q

define GENE

A

a heritable factors
- consisting of a sequence of DNA
- influences a specific characteristic

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2
Q

a gene occupies a ______ position on a __________

A

specific
chromosome

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3
Q

a specific location on a chromosome is called a?

A

locus

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4
Q

define alleles

A

alternative specific forms of the same gene
- code for diff variations of a specific trait

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5
Q

how do alleles differ from one aother

A

by one or a few bases

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6
Q

homozygous vs heterozygous

A

2 copies of same allele
vs
2 diff alleles

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7
Q

define genotype

A

the complete set of alleles for a gene

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8
Q

define phenotype

A

trait resultant of genotype

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9
Q

define gene mutation

A

change in NUCLEOTIDE SEQUENCE of a section of DNA coding for specific trait

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10
Q

new alleles are formed via _______

A

mutation

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11
Q

beneficial mutations are called …
detrimental mutations are called …
neutral mutations are called …

A

missense mutations
nonsense mutations
silent

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12
Q

what are missense mutations

A

beneficial mutations –> new variations of a trait

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13
Q

what are nonsense mutations

A

detrimental mutations –> truncates gene sequence, disrupts normal function

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14
Q

what are silent mutations

A

neutral mutations with no effect!

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15
Q

what are the 4 types of mutations

A
  1. substitutions (diff nucleotide substituted)
  2. deletions (Remove)
  3. insertion (add)
  4. inversion (switch)
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16
Q

how is sickle cell anemia caused 3

A
  • disorder caused by gene mutations (base substitution)
  • results from change to 6th codon for the beta chain of haemoglobin
  • glutamic acid replaced by valine
17
Q

what is the change in the 6th amino acid in haemoglobin that causes sickle cell anemia

A

glutamic acid to valine

18
Q

what mutation causes sickle cell anemia

A

base substitution mutation

19
Q

sickle cell anemia: sequence change in:
DNA
mRNA
polypeptide

A

GAG –> GTG (template strand: CAC)

GAG –> GUG

Glu –> Val

20
Q

sickle cell anemia: glutamic acid vs valine ?

A

glutamic acid: hydrophillic
valine: hydrophobic

21
Q

sickle cell anemia alters the _____ of haemoglobin

A

structure
(glutamic acid –> valine)

22
Q

what does sickle cell anemia result in?

A

low oxygen levels

23
Q

sickle cell anemia: so what if valine is hydrophobic? 4

A
  1. allows beta subunits to join together
  2. haemoglobin polymerises into insoluble fibrous strands
  3. cannot carry oxygen effectively
  4. changes rbc into sickle shape
24
Q

why are sickle cells bad? 2

A
  • contain fibrous haemoglobin strands
  • may form clots in capillaries = blocked blood supply
25
Q

sickle cells are destroyed _____ rapidly

A

more
= low rbc count

26
Q

what is the effect of low rbc count due to sickle cells

A

more rbcs must be made in the bone marrow to replace
- more work = damage bone structure

27
Q

define genome

A

the complete set of genetic material in a cell, organism, or organelle

28
Q

does the genome include non-coding DNA sequences??

A

yes!!!

29
Q

human genome is made up of
?? chromosomes
?? base pairs
?? genes

A

46 chromosomes

around 3 billion base pairs

around 21k genes

30
Q

what is the Human Genome Project (HGP)

A

an international cooperative established to sequence the human genome

31
Q

what did the human genome project show

A

that humans share the majority of their sequence

32
Q

what can account for diversity in the human genome

A

short nucleotide polymorphisms

33
Q

what were the outcomes of completion of the human geonome project 4

A
  1. mapping (number, location, size, sequence set)
  2. screening: production of specific gene probes = screening of genetic diseases
  3. medicine: discovered new proteins = better treatments
  4. ancestry: origins, evo, migratory patterns of man
34
Q

how are number of genes in a genome predicted

A

by identifying sequences common to the genes
- difficulties: presence of pseudogenes and transposons + diff approaches to identifying = varied estimations

35
Q

what databases are used to identify genome stuff

A

National Center for Biotechnology Information (NCBI)
- Genbank database
- Clustal Omega

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