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OKTs Flashcards

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1
Q

what pattern is AD inheritance?

A

vertical inheritance

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2
Q

what is Marfan Syndrome?

A

it is an AD condition that presents with dislocation of the lens of the eye

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3
Q

what is a carrier?

A

it is an individuals that it heterozygous for a recessive condition

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4
Q

what is the phenotypes?

A

how the genetic change manifest themselves

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5
Q

what shape is mitochondrial DNA?

A

circular

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6
Q

what is a psuedogene?

A

it is an evolutionary remnant in the form of a DNA sequence. It resembles a gene elsewhere in the genome closely but has mutations that appear to render it inactive

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7
Q

what is anticipation?

A

it is increasing severity of inherited disease as it passes down through successive generations

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8
Q

what is the karyotype?

A

we have 46 chromosomes in ours and it was correctly defined in 1956

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9
Q

what is consanguinity?

A

it is a aspect of family structure that increases the risk of autosomal recessive inheritance

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10
Q

where does mitchondrial inheritance come from?

A

maternal

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11
Q

what is the nucleosome?

A

it is the first level of assemble of the genome into chromatin for gene regulation through chemical modifications - they are units of chromatin containing around 200bp of DNA wound around a histone

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12
Q

what is the role of the centromere?

A

to separate the p and q or short and long arms of the chromosome

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13
Q

where are okazaki fragments found?

A

in DNA replication on the lagging strand

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14
Q

what is the exon?

A

it is the part of the gene whos sequence is represented in mature mRNA

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15
Q

what is a carcinoma?

A

it is a malignant epithelial tumour

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16
Q

what is the most common type of autopsy?

A

the coroners autopsy

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17
Q

what is histopathology?

A

it is the investigation and diagnosis of disease from the examination of tissues

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18
Q

what is degranulation?

A

it is the release of preformed mediators from mast cells

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19
Q

what is cytopenia?

A

a reduction in the number of blood cells

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20
Q

what is a dendrocyte?

A

it is a type of APC

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21
Q

what is the prognosis?

A

it is the anticipated course of a disease in terms of its cure, remission or fate

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22
Q

what does the suffix penia denote?

A

lack of

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23
Q

what is pathogenesis?

A

it is the mechanisms through which the aetiology of a disease produces its clinicopathological effects

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24
Q

what is one of the mechanisms of tissue damage in type III hypersensitivity?

A

generation of active components of complement factors

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25
Q

how common is selective IgA deficiency?

A

it is the commonest primary defect of specific immunity in the UK

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26
Q

what is an important characteristic of a type IV hypersensitivity reaction?

A

delayed

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27
Q

what is the suffix that denotes an increased number of cells?

A

cytosis

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28
Q

what is aetiology?

A

it is the study of causes of a disease

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29
Q

what is integral to cell mediated immunity?

A

cytotoxic surface CD8+ T cells that respond to MHC FIB

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30
Q

what is bronchiecstasis?

A

it is the widening of the bronchi or of their branches

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31
Q

what is anaplasia?

A

it is usually in tumours and is the lack of normal differentiated state

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32
Q

what does dys in dysplasia mean?

A

disordered

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33
Q

what is special about IgG?

A

it is the only immunoglobulin that is able to cross the placenta

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34
Q

what is granuloma?

A

it is infectious or foreign material that cannot be degraded or removed and is therefore engulfed in inflammatory tissue

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35
Q

what does the T in T cell stand for?

A

thymus

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36
Q

what does thymic aplasia result in?

A

lack of T cells resulting in DiGeorge syndrome

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37
Q

what is SCID?

A

it is the acronym that is used for severe combined immunodeficiency that is seen in infants where the is a failure of both B and T lymphocyte function

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38
Q

what does meta as a prefix mean?

A

change from one state to another

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39
Q

what is a polymorphism?

A

it is a common genetic variant that is present in 1% or more of the population

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40
Q

what is glutamine for by?

A

the CAG trinucleotide that is involved in some neurodegenerative disorders - anticipation is part of this and is usually polymorphic

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41
Q

what does alternative splicing result in?

A

increased diversity of gene products

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42
Q

what mutations results in short limbed dwarfism?

A

a unique activating mutation at position 308 of the fibroblast growth factor receptor 3 - results in a wellknown form of achronoplasia

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43
Q

what is the structure of chromosomes after S phase of cell cycle?

A

each chromosome comprises two identical sister chromatids

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44
Q

what does Sanger sequencing depend on?

A

the synthesis of DNA strands in the presence of chain terminators

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45
Q

what does a missense mutation result in?

A

amino acid substitution

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46
Q

what are examples of sex chromosome aneuploidy?

A

Klinefelters - 47,XXY

Turners - 45,X

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47
Q

what does a 45,XX-18 have?

A

monosomy

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48
Q

what is a robertsonian translocation?

A

it is when the two acrocentric chromosomes are fused - the vestigial short arms of acrocentric chromosomes differ in content from that of other chromosome arms as they contain no indispensable single copy genes

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49
Q

what is inversion?

A

it is an example of a recurrent mutation that is mediated by recombination between repeat sequences near the tip of the X chromosome and is commonly underlying haemophilia A

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50
Q

what is the result of a genetic bottleneck?

A

reduced diversity

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51
Q

what is alphoid?

A

a centromeric DNA repeat family

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52
Q

what is FISH?

A

it is a cytogenetic technique using DNA probes that examines a single locus

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53
Q

where is the splice acceptor site found?

A

it is found at the 5’ boundary of all but the first exon in a gene - splice donor and splice sites in the primary RNA transcript are recognised by the splicing machinery - spliceosome

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54
Q

what are dizygotic twins?

A

non identical

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55
Q

what is a somatic mutation?

A

it is a non inheritable mutation because cells that have somatic mutations make non identical daughter cells. Provided this mutation occurs early enough in development the mutated cell can make up a large amount of the individual which may cause cancer or mosaicism

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56
Q

what is an association study?

A

it is a type of genome wide genetic study that is based on a population rather than familial inheritance and is a common approach to identifying the genetic contribution to common disease

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57
Q

what are terminator types of codon in bacteria?

A

TAG, TGA and TAA

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58
Q

what is LD?

A

linkage disequilibrium means that alleles on two adjacent genetic loci are not randomly assorted into haplotypes - if they are far apart on chromosome then they will be inherited independently but if they are close then will be coinherited

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59
Q

what is a reciprocal translocation?

A

two different chromosomes break and exchange material - if there is no loss it is known as balances

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60
Q

what is heritability?

A

it is the proportion of multifactorial causation of a common disease that can be attributed to genetic factors

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61
Q

what is an oncogene?

A

a gene whos expression tends to cause or promote cancer development

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62
Q

what does the prefix g mean in mutation descriptions?

A

genome

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63
Q

what does Williams syndrome result from?

A

a microdeletion in the elastin ELN gene

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64
Q

what base presents in RNA but not DNA?

A

uracil

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65
Q

what is a conservative mutation?

A

it is a substitution of a chemically similar amino acid

66
Q

when is concordance greater?

A

when there is a genetic influence then concordance will be greater in identical than non identical twins

67
Q

what is the chiasm?

A

it is the site of meitotic recombination that is an essential part of gametogenesis. It is also a source of errors that can result in chromosomal duplications and deletions

68
Q

what is retinoblastoma?

A

it is an often hereditary cancer that is predominant in childhood and involves the eye

69
Q

what happens with the BRCA1 mutation?

A

women with this mutation have a high chance of developing breast and ovarian cancer

70
Q

what does polygenic mean

A

more than one gene contributes to the susceptibility of a disease

71
Q

what is diptheria caused by?

A

a bacterial endotoxin

72
Q

what is commensalism?

A

it is a symbiotic relationship where one organisms benefits and the other is neither benefiting or harmed

73
Q

what is the main risk factors for atherosclerosis?

A

smoking

74
Q

what is lockjaw?

A

it is an alternative name for tetanus

75
Q

what is the final destination for an amniotic emboli?

A

the lungs

76
Q

what is necrosis?

A

it is the process of cell death associated with ischaemia

77
Q

what type of embolism is associated with many TIAs in the brain?

A

platelet

78
Q

what can anaesthetic accidents result in?

A

neurogenic disruptive shock

79
Q

what is recanalisation?

A

it is the process through which new blood vessels form within a thrombus meaning that blood can return to the occluded vessel

80
Q

what maintains the low pH of the vagina?

A

bacterial species such as lactobacillus

81
Q

what are cocci?

A

they are spherical bacteria

82
Q

what is portal hypertension associated with?

A

cirrhosis

83
Q

what is S. Saprohyticus?

A

it forms part of the normal flora of the vaginal orifice

84
Q

what is gangrene?

A

it is a condition resulting from the infection of ischaemic tissue from anaerobic bacteria

85
Q

what is mitral stenosis?

A

it is the pathological cause of raised left atrial pressure in pulmonary hypertension

86
Q

what are endotoxins?

A

they are the disease causing lipopolysaccharide components of the outer membrane of bacteria

87
Q

what species of bacteria is responsible for botulism?

A

belong to the clostridium species

88
Q

how can haemorrhagic stroke result?

A

from ruptures aneurysm

89
Q

what is tinea capitis?

A

it is ringworm affecting the scalp

90
Q

what is an important growth factor released by platelets?

A

PDGF

91
Q

what is the common fate of gangrenous toes associated with diabetes?

A

dry gangrene

92
Q

what are pyogenic bacteria?

A

they are organisms that are involved in the formation of abscesses

93
Q

what are microdeletions?

A

they are loss of chromosomal segments that are too small to be picked up on metaphase chromosome banding - they are detectable by FISH or aCGH such as in DiGeorge or WIlliams syndromes.

94
Q

what does haploinsufficient mean?

A

when a gene will not tolerate the loss of one copy

95
Q

what is methylation?

A

it is a DNA modification where the major site is the cytosine residue within a CG dinucleotide

96
Q

how does a processed gene arise?

A

through retrotransposition - it is the reverse transcribed copy of mRNA and lacks introns

97
Q

what is an obligate carrier?

A

in CL recessive it is a woman who must be a carrier due to her position on the pedigree. It could be a woman with two affected sons or one who is a daughter of an affected father

98
Q

what is monozygotic?

A

it is identical twins - the genetic differences between DZ and MZ can show the heritability of a genetic trait

99
Q

what is decipher?

A

it is a database of human chromosomal variation and its clinical effects, where a patients genome imbalance can be compared to those of a large number of deposited cases

100
Q

what is microsatellite instability?

A

it is hallmark of impaired DNA mismatch repair which is used to allow replication errors to be recognised and put right - if it is impaired then errors can accumulate and cause cancer - deficient must be recognised through changes in size of STRs

101
Q

what is the initiator codon?

A

it is the first triplet in the open reading frame of mRNA and is usually AUG which encodes methionine

102
Q

what is the Knudsen effect?

A

it describes the inactivation of the TSG following a two step two hit mechanism and is used to describe the inheritance of retinoblastoma

103
Q

when does a single nucleotide deletion cause a frameshift effect?

A

in protein coding region as it will truncate or scramble the protein and therefore render it non functional. If it is earlier on then it is much less likely to be tolerated however if it occurs close to the end of an open reading frame then might still produce a functional protein

104
Q

what is 69XXY karyotype?

A

it is a triploidy syndrome with an extra set of 23 chromosomes that can be either paternally (diandric) or maternally (digynic) inherited. Digynic very occassionally are live born

105
Q

`what is the telomere in mammals?

A

they are specialised structures that form the ends of the chromosome and are synthesised by an enzyme complex telomerase. In humans they are long stretched of repeat sequences of TTAGGG

106
Q

what is cachexia?

A

it is an extreme form of systemic atrophy that may be associated with pathological loss of appetite

107
Q

what is malignant?

A

it is a tumour that has begun to invade and metastasise

108
Q

what is pleiomorphism?

A

it is when there is variation in size, shape and staining of malignant cells and their nuclei

109
Q

what is Barretts Oesophagus?

A

it is the condition associated with metaplasia of the oesophagus due to chronic reflux

110
Q

what is the bone relative to breast and primary lung cancer?

A

it is the favoured site of haematogenous spread

111
Q

what is dysplasia?

A

it is the premalignant change in proliferation and differentiation that is associated with metaplasia

112
Q

what is transcoelomic spread?

A

it is the spread of tumour cells across a body cavity such as around the peritoneal cavity

113
Q

what does anaplastic mean?

A

it is the word used to describe a population of tumour cells that have become so differentiated that they cell type of origin is impossible to establish

114
Q

what is metaplasia?

A

it is the reversible change of one cell type/differentiated state to another

115
Q

what is the most common type of metastatic spread of tumour cells?

A

lymphatic

116
Q

what is standard for blood gas analysis?

A

arterial samples

117
Q

what are clonal tumour cells?

A

population that is derived from a single precursor cell

118
Q

what can cigarette smoke lead to?

A

the transformation of pseudostratified ciliated bronchial epithelium to squamous epithelium

119
Q

what happens to the thymus during normal ageing and why?

A

size decreases due to atrophy

120
Q

what is acidosis?

A

when the blood pH is less than 7.4

121
Q

what happens to the oxyhaemoglobin curve when pH decreases?

A

lower affinity so released more easily so shifts to right

122
Q

what is an epigenetic change?

A

it is a modification to the genome that does not result in a change to the nucleotide sequence

123
Q

what is uniparental disomy?

A

it is when both copies of the chromosome are are from one parents - may be completely without clinical effect or result in significant phenotypes such as Prader-Willi syndrome

124
Q

what is warfarin?

A

it is an anticoagulant that shows genetically determined dosage sensitivity

125
Q

what is Beckwith syndrome?

A

it is an overgrowth syndrome due to the dysregulation of the IGF2 gene - this is an insulin like growth factor that is important in foetal growth regulation and is encoded by an imprinted gene on 11p15

126
Q

what regulates gene expression?

A

modifications to the histone class of protein

127
Q

what does a deficiency in butyrylcholiesterase or pseudocholinesterase result in?

A

failure to wake up from an anaesthetic

128
Q

what isw a CpG island?

A

it is a cluster of CG nucleotides frequently found near the 5’ end of the gene - increased density where it is normally depleted - usually unmethylated but sometimes can become methylated and change gene transcriptional activity

129
Q

what does Lynch syndrome result from?

A

hereditary non polyposis colon cancer - AD disorder due to a defect in any of the several genes involved in post replicative DNA repair

130
Q

what is the hallmark of lynch syndrome?

A

microsatellite instability

131
Q

what is the genetic abnormality behind complete hydatidiform moles ?

A

androgenesis

132
Q

what does thiopurine methyltransferase show?

A

genetic variation in activity that results in toxicity in response to treatment with cytotoxic drugs which result in side effects due to bone marrow supression

133
Q

what is lyonisation?

A

the term for X inactivation in females

134
Q

when are preimplantation genetic tests done?

A

on in vitro cultured embryos

135
Q

what are pseudoautosomal regions?

A

they are small shared regions shared between the X and Y chromosomes - exchange of material occurs in these regions during genetic recombination

136
Q

what is name for the involuntary movement that is typical in HDD?

A

chorea

137
Q

what are imprinted genes?

A

genes that are monoallelically expresses according to their parent of origin that may change according to stage of development

138
Q

what is penetrance?

A

it is the frequency with which an inherited disorder manifests itself within gene carriers and is usually applied to dominant disorders that have incomplete penetrance

139
Q

what are cytochrome P450 oxidases?

A

they are enzymes that are encoded by a family of genes and are responsible for metabolising many common drugs - there are many members of the gene family and are polymorphic

140
Q

what is CVS?

A

chorionic villus sampling is an invasive method for obtaining tissue of foetal genotype for prenatal diagnostic testing - the alternative is amniocentesis

141
Q

what is the grade of a tumour?

A

it is how aggressive a tumour is in terms of how closely it resembles its tissues of origin

142
Q

what are teratomas?

A

malignant tumours of germ cells

143
Q

what is a rhabdomyosarcoma?

A

it is a malignant tumour of the striated muscles

144
Q

what is collagen?

A

it is the most abundant protein in the ECM and the target of MMPs

145
Q

what is aflatoxin?

A

it is a potent carcinogen that is produced by a species of aspergillus growing on food

146
Q

what happens over a lifetime with oestrogen?

A

exposure accumulates and plays an important role in the risk of developing breast cancer

147
Q

what is the initial spread of carcinoma cell through?

A

lymphatic route

148
Q

what is an angioma?

A

a benign tumour of the blood vessels

149
Q

what is a lipsarcoma and a lipoma?

A

the malignant tumour of adipose tissue

lipoma is benign

150
Q

what is amplification/?

A

it is a common mechanism by which a proto-oncogene may become abnormally over expressed

151
Q

what are promoters?

A

they are types of carcinogens that are effective at directly or indirectly stimulating the proliferation of cells

152
Q

what staging method is used in colorectal cancer?

A

dukes staging method

153
Q

what is the increased cellular feature in invasion?

A

motility

154
Q

what is osteosarcoma?

A

malignant tumour of the bone

155
Q

what is intravasation?

A

the stage at which the metastatic sequence allows access to vascular dissemination

156
Q

what is meningioma?

A

benign disease of the meninges

157
Q

what is stage?

A

it is the extent to which a tumour has spread

158
Q

what site of tumours is usually associated with the condition XC?

A

the skin

159
Q

in TMN, what do N and M stand for?

A 
N = nodes
M = metastasis
160
Q

what is multiple myeloma?

A

a malignant disease of the bone marrow

EMS Genetics (19 decks)

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