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ANHB1101 Exam > Human Genetics 1 & 2 > Flashcards

Human Genetics 1 & 2 Flashcards

1
Q

describe dominant allele

A

mask other traits (Written in capital) (one copy needed)

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2
Q

describe recessive allele

A

is covered when dominant is present (Written with lowercase) (two needed)

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3
Q

what is a purebred

A

homozygous (two identical alleles e.g. aa, AA, for particular gene)

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4
Q

what is hybridisation

A

crossing of two purebred plants

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5
Q

what are the 3 generations according to mendel

A

P gen (parental)
F1
F2

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6
Q

what is a genotype

A

combination of genes in individual (written underlined or in italics)

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7
Q

what is a phenotype

A

physical trait and depend on genotype

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8
Q

What probabliitys do you include in punnet squares

A

prob of geno + pheno

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9
Q

What is mendels first law

A

law of dominance

- only one trait is shown= dom trait

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10
Q

what is a dihybrid cross

A

crossing with two genes/traits e.g. yellow/green + round/wrinkled

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11
Q

mendels second law

A

law of segregation
inherited traits exists in alleles
- this pairs segregate + sex cell only receives 1

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12
Q

mendels third law

A

law of independent assortment

- alleles distributed indecently from one another

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13
Q

what are monogenic traits

A
  • Traits (genes/alleles) with simple Mendelian inheritance
  • Characteristic/trait determined by a single gene/allele
  • One locus on a chromosome
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14
Q

what are monogenetic diseases classified into

A

• Autosomal vs X-linked
o Is the gene located on an autosome or sex chromosome?
• Dominant vs recessive
o How many alleles are necessary to express the phenotype?

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15
Q

when determining mode of inheritence= whats the first step

A

do all affected individuals have an affected parent
Yes= dom
No= rec

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16
Q

when determining mode of inheritence= if dom, how to determine whether auto or x linked

A

father to son transmission
yes= autosomal
no= x linked

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17
Q

when determining mode of inheritence= if rec, how to determine whether auto or x linked

A

only males affected?
yes- x linked
no= auto

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18
Q

if sexes are equally affected in monogenic disease, is it x linked or auto

A

auto

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19
Q

what is the interbreeding coefficient

A

prob that genes at randomly chosen location are identical by descent

20
Q

what is interbreeding depression

A

Reduction in performance and viability due to reduced genetic variation with increasing interbreeding levels

21
Q

what is the problem with interbreeding

A
  1. Breeding from small gene pool can increase autosomal recessive disorders in a line if there is a carrier in that line
22
Q

how does green eyes work

A

2 alleles (OCA2- Brown, blue, Gey- Green, blue)

23
Q

in OCA2 and Gey what is dom and rec

A

Brown (B) dom over Green (G) and blue (b)

Green (G) dom over blue (b)

24
Q

What do the genes that determine eye colour actually function as/ express

A
  1. Melanin // amount coded determines eye colour
  2. Amount of pigment melanin found in stroma of iris determines eye colour
  3. Lots of melanin= brown, less= green, little to no= blue
25
Q

what is the non functional melanin gene

A

blue

26
Q

how does blue eyed parents= brown eyes child

A

OCA2= OCA2 + HERC 2

  • needs HERC2 to turn on OCA2 which then makes pigment
  • if either not working = blue rather than intended dom brown // carrier of brown
27
Q

what sort of trait is eye colour

A

polygenic

28
Q

explain polygenic inheritance

A
  • Characteristic/trait result of combined effect of several genes
  • results in continuous range of small differences in given trait among individuals
29
Q

explain incomplete/partial dom

A
  • intermediate inheritance, = neither of two alleles are entirely dominant
  • heterozygous indiv. exhibit a blending of two traits to produce intermediate phenotype b./w that of two
  • homozygous parents
30
Q

explain co-dominance

A
  • Occurs when pairs of non-identical alleles are both expressed equally in the phenotype of a heterozygous individual
  • No single one is dominant over the other
31
Q

explain multiple alleles

A
  1. more than two different alleles exist for the same trait

2. Many possibilities of allele combinations in a population

32
Q

explain pleiotropy

A
  • Alleles at a single locus may have effects on two or more traits/phenotypic effects
  • Example: sickle cell disease
  • Mutant allele at beta globin locus has different effects and causes different symptoms
33
Q

explain epistasis

A
  • nteraction b/w products of gene pairs

* Interaction b/w two genes in which one of the genes modifies the expression of another

34
Q

what are linked genes

A

ocated close together on a chromosome , making them likely to be inherited together (left)

35
Q

diff b/w urine + thymine

A

o Uracil is missing a methyl group at carbon 5 of the pyrimidine ring

36
Q

chemical classification of the nitrogenous bases

A
  • Purines:
  • Adenine (A),
  • thymine (T),
  • Pyrimidines
  • guanine (G),
  • cytosine (C)
37
Q

how to work out chemical orientation of DNA

A
  • 5’end (five prime end), contains a phosphate group attached to the 5’ carbon of the ribose ring
  • 3’end typically unmodified from the ribose -OH substituent
38
Q

how are bonds b.w stacking dna

A

van der wall

39
Q

how is DNA packaged in cell

A

in form of Chromatin= DNA + histone proteins

40
Q

diff between euro and heterochromatin

A

o Euro: less condensed (can be transcribed)

o Hetero: highly condensed

41
Q

what phase does chromosome replication

A

s phase

42
Q

what are the two locations classifications of genes described

A

cytogenetically or molecularly

43
Q

explain cytogenetical classification

A

• Eacharm divided into (cytogenetic bands)
• Counting from the centromere out towards telomeres
• P= petite arm (shorter) p1, p2, p3
Q= queue arm (longer) q1, q2, q3

44
Q

explain molecular location of a gene

A
  • Sequencing: technique determine nucleotide order on DNA

* Nucleotide sequence can be used to map genes (location) on DNA by counting nucleotides

45
Q

what does non coding DNA do

A

biochemical activities, including regulation of gene expression, organisation of chromosome architecture, signals controlling epigenetic inheritance

46
Q

describe dna replication in prokaryotes

A

DNA is rearranged as a circular ring chromosome

3. Starts at a specific point DNA= origin of replication

47
Q

describe dna replication in Eukaryotes

A

Eukaryotes: DNA is rearranged as discrete chromosomes
• DNA replication happens in nucleus
• Semiconservative DNA replication
• One old parent strand paired with a newly synthesized strand

ANHB1101 Exam (14 decks)

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