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DNA Flashcards

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1
Q

why is water polar

A

uneven distripbution of electrons and shapes, electrons are more strongly attracted to oxygen (electronegative-) than hydrogen (elecrtopositive +)

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2
Q

glycosidic bond

A

between OH or NH with another OH or NH, produce water molecule, between monosacharides

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3
Q

formula of monosacharide

A

Cn(H2O)n

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4
Q

differnce between O-glycosidic bonds and N-glycosidic bonds

A

O-form disaccharides, oligosaccharides and polysaccharides
N- in nucleotides and DNA

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5
Q

what are fatty acids

A

hydrocarbon chains, carboxylic group, CnH2n+1COOH
trans
cis- H are on same side as double bond so bent and has lower bp

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6
Q

phosphoacylglycerols

A

derived from phosphatidic acid, formed from fatty acids esterfied to glycerols and phosphorylated at c3

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7
Q

sphingolipid

A

derive from ceramide, is a type of fatty acid, , found in cell membrane e.g. sphingomyelin, ganglioside, galactocebracide

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8
Q

what is a steroid

A

derive from cholesterol and produced in all animal cells, gonane- steriod core structure, 4 fused C rings

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9
Q

what is a eicasanoids

A

lipid, derive from cholesteral, syntheised from 20c fatty acids which have 3,4or5 double bonds in them, signalling molecule e.g. prostaglandin, thromboxane, leukotriene

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10
Q

aliphatic

A

organic compound containing H and C linked togther by bonds

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11
Q

amino acid

A

amino group, side chain, carboxyl group
nature of side chain determnies its polarity

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12
Q

non-polar amino acids

A

don’t have a H+ acceptor or donor atoms in R group, and have aliphatic or aromatic group, bulky and hydrophobic

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13
Q

polar charged and uncharged

A

contain atoms such as O,N,S in R group, that mean they can from hydrogen bonds with water

charged have a charge in their side chain- amino acid can bepositively or negatively charged

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14
Q

peptide bonds

A

between carboxyl group and nitrile group

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15
Q

nucelotide

A

nitrogenose base (ATCG/U), sugar, phosphate

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16
Q

purine vs pyrimadine

A
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17
Q

what replaces thymine

A
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18
Q

what is a monosaccharide and what functional groups are present

A

simple sugar that is the basic building block for carbohydrates, it will have a carbonyl grooup

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19
Q

what is an aldose

A

monosaccharide which has carbonyl group at endmost C, therefore an aldehyde- Monosaccharides are also classified as aldoses or ketoses to indicate the carbonyl-containing group that is present

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20
Q

what is a ketose

A

monosacharide which has a carbonyl group in middle of chain and therefore a ketone- Monosaccharides are also classified as aldoses or ketoses to indicate the carbonyl-containing group that is present

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21
Q

which bases are pyrimadine and which are purine

A

pyrimadine (1 ring) T,U,C
Purine (2 rings) AG

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22
Q

define gene

A

part of a chromosome that codes for a specific polypeptide chain

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23
Q

genomics

A

The study of all of a person’s genes (the genome), including interactions between these genes and between the genes and the environment

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24
Q

hemizygous

A

used to describe the genotype of a male with an X-linked trait

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25
germline mosaicism
Also known as gonadal mosaicism, this is the presence of two populations of cells within the gonad that differ genetically.
26
heteroplasmy vs homoplasmy
heteroplasty- mitochondria of an individual have more than one population homoplasmy- This denotes that the mitochondria of an individual all form one population.
27
28
sister chromatids vs homologous chromosomes
sister chromatids- 2 identical strands of a chromosome known as sister homologous chromosomes- pairs of chromosomes in a diploid organism that have similar genes, although not necessarily identical.
29
Karyotype
The number, size and shape of the chromosomes of an individual. The term also describes a photomicrograph of an individual’s chromosomes, arranged in descending order of size (but strictly, this is a karyogram).
30
Locus heterogeneity
The phenomenon in which variants in different genes cause the same disease. (Compare this to allelic heterogeneity, in which multiple variants in the same gene can cause the same disease.)]
31
Polymorphism
The presence of two or more variant forms of a specific genetic sequence in the genome. The sequences may vary by only a single nucleotide (called a single-nucleotide polymorphism) or may involve longer stretches of DNA.
32
Robertsonian chromosome
Also known as acrocentric chromosomes, these are chromosomes in which the centromere is close to one end of the chromosome. In the human genome, the acrocentric chromosomes are 13, 14, 15, 21, 22 and Y.
33
sex-limited
Sex-limited genes are present in both sexes but are only expressed in one sex and are not expressed (i.e. have zero penetrance) in the other sex. Examples in humans include premature baldness and pattern of beard growth.
34
what is imprinting? can you name any gentic diseases caused by imprinting?
certain genes either paternal or maternal copy can be switched on and off and disease occurs when this is done incorrectly example is prayer-willi syndrome, angelman syndrome
35
Autosomal recessive? when will it occur? name some features?
disease will manifest in homozygous state and therefore requires 2 defected genes, chance of having disease 1/4, chance of being a carrier is 1/2, chance of affected sibling being a carrier is 2/3, both genders rae equally affected, can skip generations, an example is cystic fybrosis (carrier frequency is 1/25 and is due to F508 defect)
36
Autosomal dominant? when will it occur? name some features?
disease will manifest is heterozygous or homozygous state (cannot be a carrier) and only requires 1 defected gene, chance of having disease is 1/2, males and females affected equally, will affect multiple generations e.g. huntingdons disease, both parents can sometimes be unaffecetd e.g. gonadal mosaicism, mother has reduced penetrance, mother has variable expressivity
37
penetrance
percentage of individuals who have variant in gene who develop medical condition because of it.
38
types of chromosome abnormalities
deletion (causes majority of issues) duplication (rarely causes disease) extra/missing chromosome (trisomy/monosomy) translocation (sections move between non-homologous chromosomes)
39
what does it mean if a gene is 'dosage sensitive'
extra or less disrupts signalling pathways, 100% of signal is needed to help organ develop if more or less than 100% it will be abnormal
40
discuss the three gemomes found in a person
germline/gonadic- genome found in sperm and ova, inheritable somatic- genome found in every other cell, not heritable mitochondria- genome found in mitochondroal DNA, passed from mother to children
41
mutagen vs teratogen
Mutagen is any type of physical or chemical agent that alters DNA sequenece causing mutations. Teratogen are agent that causes physical and functional defects in the embryo after the mother is exposed to those agents (affect development). Some teratogens are also mutagens?
41
what is polymorphism
non-pathogenic variation at locus from 'wild type'- normal allele
41
non-disjunction
failure to seperate at Metaphase 1 or 2, can lead to trsomy or monosomy
42
can a mutaion in a single gene cause disease?
yes, it is called monogenic/mendelian examples are autosomal domiant, autosomal recessive, x-linked and Y-linked
43
gonadal/germline mosaicism
One of healthy parents has a mutated germline (increases in risk in age) e.g. duchenne
44
consanganuity
reproductive union of relatives, increases risk of autososmal rescessive diseases
45
variable expression
have same genotype but may express difefently (e.g. different severity/types of symptoms)
46
anticipation
trinucleotide repeat of mutated sequence becomes bigger over time e.g. huntingdons
47
congenital vs late onset
congenital is straight from birth but late onset manifests later in life
48
autozygosity
same muation from both sides of family
49
hemizygous
genes carried on an unpaired chromsome e.g. men are hemizygous for Y
50
lyonisation
1 female X chrosome randomly unactivated to prevent 2 x genes being expressed
51
imprinting
1 inherited allele suppressed of 2 inherited
52
sex-limitation
gene only affects one sex e.g. BRCA-1
53
X-linked
male to male transmission cannot occur, male can't be carriers if on X-chromososme than has to be expressed
54
Y-linked
only males can have disease, dad passes to all sons
55
missense and nonsense
missense causes a new amino acid to be cocded for but nonsense cause a premature formation of stop codon
56
what is a single nucleotide variant
One DNA base is changed to another Non-synonymous alters protein Synonymous no alteration to protein. Might still produce the same amino acid so same protein
57
copy number variants (CNV)
Deletion or Duplication of a segment of a chromosome Can affect single exon or hundreds of genes
58
De novo mutations
disease causing genetic variant occurs in sperm or egg (increased risk with increased age)(also more common in sperm- continual dividing over life)
59
Reccurence risk
Recurrence risk: chance person affected by gentic disease has an offspring also affected
60
multifactoral inheritance
Multifactoral inheritance: - genetic and environmental causations can be considered as a single entity known as 'liability'
61
synonymous vs non-synonymous
synonymous: single nucleotide variant (missense), not alter proteins structure non-synonymous: will alter protein

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