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genetics physio Flashcards

1
Q

single gene dos

A

heritable
often due to spontaneous mutation at first
5 main patterns:
auto dom/rec
x linked dom /rec
y linked

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2
Q

how to determine inheritance pattern

A

pedigree diagram

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3
Q

how to determine recurrence risk

A

monohybrid cross amd punnet square

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4
Q

AD inheritance characteristics

A

affects both genders
tranmission one gen to next
all forms of trans (m-m, m-f etc)
normal + affect have 50% chance of affected offspring

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5
Q

ad conditions

A

marfans syndrome - long boi
achondroplasia - dwarf
neurofibromatosis type 1 - axillary or groin freckles, adult clusters of fibromas, false joint
myotonic dystrophy - long face, gynaecomastia

postaxial polydactyly- extra lil fingie
familial hyperchol
huntingtons dx

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6
Q

AR characteristics

A

m and f affected
recessive traits only manifest in homozyg
heterozyg are unaffected and carriers
offspring of 2 heterozyg is 25% chsnce of affected

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7
Q

ar dos

A

occulocutaneous albinism
sickle cell dx
cystic fibrosis
spinal musclar atrophy

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8
Q

xlr characteristics

A

affected father - all f will be carriers
affected mother - all offspring either affected or carriers
carrier mother - half daughters carriers, half sons affected, rest normal
mainly males affected
affected m will not have affected m offspring

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9
Q

xlr dos

A

duchennes muscular dystrophy - normal till age 6 and quickly degen
hemophilia
r g colour blindness

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10
Q

xld characteristics

A

father affected - all f affected and m unaffected
mother affected - 50/50 for all

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11
Q

non mendelian inheritance

A

mitochondrial inheritance
maternal lineage transmission

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12
Q

xld dos

A

fragile x syndrome - mental retardation in males
x linked hypoposphataemia (rickets)

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13
Q

y linked characteristics

A

always affected m has affected m offspring
very few genes and so rare dos

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14
Q

y genes carries

A

sry gene - absent results in ambiguous genitalia
spermatogenesis genes
H-Y histocompatibility Ag (transplant)

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15
Q

what has lower recurrence risk uni or multifactorial dos

A

multifactorial

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16
Q

what creates the highest relative risk

A

high risk genotype + high risk environment

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17
Q

common multifactorial dos

A

cleft lip
cdh
chd
neural tube defects
pyloric stenosis
congential talipes equinovarus - club foot

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18
Q

variance of multifactorial dos

A

does not fit in with mebdelian patterns
clusters in family may be genetically predisposed but
environment plays a significant role in the phenotype in the individual

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19
Q

neural tube defects (ntd)

A

high recurrence risk - 60%
number of siblings affected correlates to increased risk of subsequent affected offspring

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20
Q

cleft lip with or w/o cleft palate

A

76% heritability
syndromic vs non syndromic
uni/bilat

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21
Q

ctev - club foot

A

congential talipes equinus varus
68% heritability
often a result of the environment

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22
Q

chd

A

35% heritability
acyanotic vs cyanotic chd
trisomies - downs - avsd
teratogens - congen infections

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23
Q

common defect in acchd

A

vsd

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24
Q

common defect in cchd

A

tetralogy of falot

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25
cancer can be due to
*inherited* mutations: tumour suppressor genes / proto oncogenes somatic cell mutations: not inherited, accumulation of mutations
26
brca1 & 2
carry > 75% risk f - ovarian, m - prostate auto dom
27
fap
mutation of apc gene early onset of colon carcinoma
28
lynch synd / hnpcc
familial cases of cancers in different organs
29
genetic syndromes linked to cancer
downs - leukemias albinism - skin cancer nf1 & 2 - neurofibromas etc
30
obesity
6-85% heritability heavily influenced by environment
31
dbt mel t1
must be triggered higher rel risk environmental factors - diet, viral exposure in childhood
32
dbt mel t2
primarily due to lifestyle no major genetic cause but are susceptibility genes environmental factors - age, sedentary, metabolic syndrome
33
chromosomal abnormality
morphological or numerical alteration in single or multiple chromosomes, may affect autosomes or sex chromosomes
34
what proportion of common cancers have strong hereditary component
5-10%
35
what proportion of neonates have at least one major congen abn
3% 50% of which are exclusively or partially genetic factors
36
what is proportion of children who show developmental problems
12-14%
37
what proportion of older adults in developed countries have genetic medial problem
50%
38
different types of chromosomal abn
numerical structural different cell lines (mixoploidy)
39
aneuploidy types
mono tri tetrasomy
40
polyploidy types
triplo tetraploidy
41
types of numerical abn
aneuploidy and polyploidy
42
types of structural abn
translocation - reciprocal vs robertsonian deletions insertions inversions - paracentric vs pericentric rings isochromosomes
43
types of mixoploidy
mosaicism chimerism
44
implication of germline mutation
that mutation is incorporated in every cell of the body and can be heritable vs somatic mutation which is acquired in a single body cell
45
genetic chimerism
single organism composed of cells from different zygotes m + f organs two blood types merging of two fertilized eggs
46
mosaicism
state of being composed of cells of two genetically different types in a single organism developed from a *single zygote*
47
chimerism vs mosaicism
c - different germ lines and zygotes m - different germ lines SAME zygote
48
euploid defn
n number of chroms (2n)
49
polyploidy defn
chrom number is exact multiple of haploid number (n) eg 2n, 3n, 4n triplo/tetraploidy
50
aneuploidy defn
chrom number not exact multiple trisomy - over diploid n monosomy - one chrom missing
51
karyotype of triploidy
69, XXY
52
karyotype of trisom 21
47, XX + 21
53
karyotype of klinefelters synd
47, XXY
54
karyotype of turners synd
45, X
55
balanced translocations
extra gene is moved somewhere else
56
structural abn can result from (breakage process)
chrom breakage sticky ends produced repair mechanisms join these ends soemtimes the wrong ends are joined breakage increases by ionic exposure and mutagens
57
translocation definition
transfer of chom material between chroms balanced does not pose a problem
58
types of translocations
reciprocal central fusion - eg Robertsonian - rel to ds insertional
59
deletion
loss of any part of chrom
60
duplication
presence of two copies of segment of chrom. less harmful than deletion
61
inversion
180° change in direction of chrom seg
62
ischrom
abn chrom where deletion of one area and dup of another area
63
centric fragment
addition of small fragment, usually metacentric
64
robertsonian transloc
breakage of two acrocentric chroms at or near the centromere
65
reciprocal transloc
exchange of gen material away from centromere
66
balanced transloc
no overall loss or gain carriers often unaffected
67
unbalanced trans
feotus may spontaneously abort liveborn may have dysmorphic features etc
68
transloc of ds
robertsonian trans when chr 21 joins with 14
69
pericentric inversions
include centromere
70
paracentric inversion
does not include centromere
71
ring chrom
when breaks occurs on each arm of chrom leaving 2 sticky ends portions unite to form a ring
72
isochrom
when a chrom loses one of its arms and replaces with an exact copy of the other arm *replicated and symmetrical across centromere*
73
brushfields spots
speckled iris, little white spots slightly elevated on the surface
74
klinefelters synd
47, XXY 1 in 1000 male live births child- mild learning difficulties iq red adult- taller with longer limbs, gynaecomastia, absence of sperm, leg ulcers
75
turners synd
45, X 1 in 5000 to 10000 2nd trim - swelling at back of neck birth and childhood normal short stature with ovarian failure absence of menstruation infertile
76
47, XYY
non disjunction at paternal meiosis 2 or as post zygotic event
77
fragile x synd
1 in 5000 males accounts for 4-8% of males with learning difficulties fragile side close to telomere at end of long arm
78
angelman and prader willi synd
microdeletion in the chrom 15 maternal- a synd paternal- pd synd
79
angelman synd clinical
inapprop laughter, convulsions, poor coord
80
parder willi synd clinical
hupotonic, poor infancy feeding, developes into hyperphagia and obesity
81
teratogens defn
agents that interfere with cell growth, differentiation, proliferation, migration, causing structural/ functional abn flowing pregnancy each has a specific pattern of effects
82
highest incidence of teratogenic
fetal alc spectrum do
83
teratogen exposure pre-implantation
does not result in congen abn
84
teratogen exposure during embryonic phase
wk 3-8 highest risk for damage
85
teratogen exposure during feotal period
less susceptible organ systems grow and mature
86
high risk of teratogenicity
wks 3-8
87
direct teratogen
by passes the placental barrier to affect feotus
88
indirect teratogen
affects mothers metabolism / circulation eg alcohol
89
effects of tobacco
low bw premie resp complications chd fetal /infant death
90
dna methylation
prevents transcription on a certain gene to silence growth
91
histone modification
histone prevent dna from tangling and protects from damage it can be modified by enzymes to partially unwind making it more accessible for expression
92
no coding rna
rna produce protein ncrnas called *enhancer rnas* transcribe from enhanced region of a gene promote the gene expression
93
epigenetics
the study of the signals than control or order dna to do stuff
94
criteria for screening program
the disease - common and have serious defects that are preventable the test - accurate and reliable + high spec and sens the program - fair and equitable, voluntary and reasonable and affordable
95
types of tests
carrier tests - for recessive genes presymptomatic- auto dom eg huntingtons inherited predisp - brca prenatal - ds newborn - sickle cell identity - paternity physical exam
96
proportion of genic causes for congent defects
30-45%
97
syndrome defn
consistent and recognizable pattern of abn fot which there is a known underlying causes or >3 dysmorphic features
98
sequence defn
several findings occurring consequently to a cascade of events initiated by single prim factor eg potter seq
99
association defn
non random occurrence of certain malforms more often than would be expected by chance eg vacterl association
100
malformations

T 2.5 (10 decks)

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