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DT4 Exam 3 > Genetics > Flashcards

Genetics Flashcards

1
Q

dysmorphology

A

study of abnormal form

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2
Q

congenital anomaly

A

abnormality present at birth from any cause

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3
Q

major anomaies

A

defects that require medical or surgical intervention

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4
Q

minor anomalies

A

no serious medical or cosmetic significance

3 or more minor increase suspicion for major incidence

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5
Q

normal variants

A

features that fall to far end of spectrum

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6
Q

problems in morphogenesis

A

malformation
deformation
disruption

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7
Q

malformation

A

abnormality of morphogenesis due to intrinsic problem within developing structure
due to altered tissue formation, growth or differnetiation due to genetic environmental or a combination of factors

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8
Q

deformation

A

abnormality of morphogenesis due to extrinsic force on a normally developing or developed structure
mechanism-fetal constraint

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9
Q

plagiocephaly

A

asymmetric head
occurs pre or post natal
corrected by helmets or positioning

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10
Q

disruption

A

abnormality of morphogenesis due to destructive force acting upon the developing structure
mechanism-cell death or tissue destruction due to vascular, infectious or mechanical force

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11
Q

vascular causes

A

aberrant vessels
vascular occlusion
hypoperfusion
vasoactive drugs

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12
Q

porencephaly

A

vascular accident

occlusion of a cerebral artery may cause a porencephalic cyst

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13
Q

poland anomaly

A

subclavian artery disruption
absent pectoral muscle defect
ipsilateral limb defect

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14
Q

sequence

A

cascade of effects stemming from a single localized abnormality in early morphogenesis-single localized abnormality may be of malformation, deformation or disruption

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15
Q

Shh

A

causes holoprosencephaly

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16
Q

Robin sequence

A

micrognathia
abnormal tongue protrusion
U shaped cleft palate
possible airway obstruction

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17
Q

Potter sequence

A

micrognathia
large ears typical
pulmonary hypoplasia
renal agenesis

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18
Q

association

A

combination of anomalies which occur together more frequently than by chance alone
etiology is unknown
most cases sporadic

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19
Q

CHARGE association

A 
coloboma of eye
heart defects
atersia of choanne
retardation of growth and development
genital anomalies
ear anomalies
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20
Q

VATER association

A

vertebral defects
imperforate anus
tracheo-esophageal fistula
rena lor radial ray defects

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21
Q

MURCS association

A

mullerian duct, renal and cervical vertebral defects

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22
Q

complex

A

anomalies of several different structures in same body region during embryogenesis

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23
Q

OEIS complex

A

omphalocele
exstrophy
imperforate anus
spinal defects

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24
Q

syndrome

A

multiple structural defects in one or more tissues thought to be due to particular chromosomal, genetic, teratogenic

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25
Q

Cornealia de Lange syndrome

A

short stature
mental retardation
limb defects
characteristic facies

26
Q

polymorphism

A

variant allele that is present in greater than one percent of the allelic population

27
Q

allelic heterogeneity

A

different alleles at the same locus (gene) which give rise to the same or similar disease

28
Q

dystrophin

A

required for assembly of synaptic junction

29
Q

Duchenne

A

out of frame deletions in DMD gene

no protein can be detected by IF

30
Q

Becker

A

in frame deletions

some protein detectable in myocytes by IF

31
Q

locus heterogeneity

A

genes at different loci that cause the same or similar disease

32
Q

PKU type I

A

defect in PAH

restrict phenylalanine and provide tyrosine

33
Q

PKU type II

A

defect in BH4

restrict phenylalanine and provide LDOPA and 5HT

34
Q

PKU type III

A

defect in biopterin synthesis

restrict phenylalanine and provide LDOPA and 5HT

35
Q

mitochondrial genome

A

37 genes involved in ox-phos, rRNA and tRNAs

36
Q

heteroplasmy

A

mixture of mt genomes, some mutant and some wild type

37
Q

polygenic inheritance

A

two or more genes (gene products) interact to render the actual phenotype

38
Q

genetic phenomena from gene-gene interactions

A

sex influenced traits (AD)
incomplete penetrance
variable expressivity

39
Q

penetrance

A

probability of manifesting a trat given the presence of a defective allele
either or phenomenon
only in dominant modes of inheritance

40
Q

calculating percent penetrance

A

number with penotype/cases with genotype

41
Q

retinitis pigmentosa

A

heterozygous for both peripherin and ROM1 develop RP

42
Q

fragile x

A

moderate intellectual disability, large heads, large protruding ears, stubby hands, prominent jaw

43
Q

Sherman paradox

A

position in pedigree in part determines risk of developing the syndrome

44
Q

molecular basis Sherman paradox

A

FMR1-normal and premutation (50-200 repeats)

45
Q

location FMR1 mRNA

A

brain and testes

nucleocytoplasmic shuttling protein, role in postnatal brain development

46
Q

anticipation

A

apparent worsening of disease over several generations

47
Q

myotonic dystrophy

A

AD characterized by myotonia, ptosis, cataracts, hypogonadism, frontal balding, ECG changes
trinucleotide repeat in 3’ UTR protein kinase ch 19

48
Q

expressivity

A

type or degree of manifestation of a gene that is penetrant

49
Q

neurofibromatosis

A

AD

cafe au lait spots and benign neurofibromas

50
Q

uniparental disomy

A

gamete disomic for given chromosome will fertilize one which is nullisomic for same chromosome

51
Q

genetic imprinting

A

some genes are activated or inactivated in a sex specific manner

52
Q

prader wili

A 
obesity, hyperphagia
intellecutal disability
hypogonadism
small hands and feet 
only maternal 15q
53
Q

angelman

A

severe intellectual disability
spasticity
seizures
only paternal 15q

54
Q

multifactorial inheritance

A

environmnetal and genetic factors combine to produce phenotype

55
Q

threshold human disease

A

NT defects
cleft lip/palate
cardiovascular disease
A1AT and emphysema

56
Q

Alzheimer genetics

A

mutations in presenilins and APP lead to overproduction of Abeta peptide and early onset form of disease

57
Q

population genetics

A

study of distribution of alleles in populations and factors that maintain or alter allele frequencies

58
Q

Hardy Weinberg Law

A

genotypes will be distributed in a population based on allele frequencies
genotype frequencies remain constant from generation to generation

59
Q

conditions Hardy Weinberg law

A 
random mating
large population
negligible net mutation rate 
negligible amount of migration
negligible amount of selection
60
Q

nonrandom matings

A

consanguineous matings
matings in stratified population
assortative mating
(increase in homozygotes)

61
Q

genetic fitness

A

probability of transmitting gene to next generation

62
Q

founder effect

A

group do not have the same allele frequencies as their original population or the population they move into

DT4 Exam 3 (5 decks)

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