Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathophysiology > Exam 1: Ch 6 > Flashcards

Exam 1: Ch 6 Flashcards

1
Q

__ pairs of autosomes

A

22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

__ pairs of sex chromosomes

A

1 pair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

genetic diseases are caused by…

A

mutations in DNA sequence

chromosome-level abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

gene

A

DNA that codes for a protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

locus

A

gene location on a chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

allele

A

alternate version of a gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

homozygoes

A

2 identical alleles for a gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

heterozygous

A

2 different alleles for a gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

genotype

A

genetic composition

dictates phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

phenotype

A

observable trait/characteristic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

dominant traits

A

traits that are expressed in heterozygous

only need one dominant allele to be expressed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

recessive traits

A

traits expressed only in the homozygote with 2 recessive alleles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

co-dominant

A

both alleles are expressed in the heterozygote

ex. blood type… A,B are codominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

how many alleles for blood type?

A

3

A, B, O

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

blood type genotypes and phenotypes

A

AA, AO = type A

BB, BO = type B

OO = type O

AB = type AB

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

single gene disorder

A

mutation in 1 gene

autosomal or sex-linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

sex-linked disorder

A

almost always on X chromosome and generally recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Punnett square mom/dad

A

mom’s alleles are horizontal

dad’s alleles are vertical

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

can you use the term carrier to describe dominant traits?

A

no, b/c 1 dominant allele gives you the trait

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

examples of autosomal dom. disorders

A

achondroplasia

adult polycystic kidney disease

huntington chorea

familial hypercholesterolemia

marfan syndrome

neurofibromatosis (NF)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

examples of autosomal recessive disorders

A

cystic fibrosis

oculocutaneous albanism

phenylketonuria (PKU)

sickle cell disease

tay sachs disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

examples of x-linked recessive disorders

A

hemophilia A

R/G colorblindness

Fragile X

Bruton type hypogammaglobulinemia

Duchenne dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

autosomal dominant disorders

A

single mutant allele inherited from either parent –> disease

commonly involve abnormal structural or developmental proteins

transmission equally likely to male/female children

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

variable penetrance

A

not everyone who gets the gene expresses it

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

variable expressivity

A

variation in how severely a trait is expressed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

new mutations can arise…

A

affected person does not have an affected parent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Marfan’s syndome

A

autosomal dom. connective tissue disorder (defect in structural protein)

mutation of FBNI gene that codes for fibrillin I, a component of elastin fibers

many different mutations possible… no genetic diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

symptoms of Marfan’s syndrome

A

long thin fingers (arachnodactyly)

spinal deformities (kyphoscoliosis)

lens dislocation from weakness is suspensory ligaments

pectus excavatum

dilation and aneurysm of the aorta (life threatening)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

neurofibromatosis

A

autosomal dom. mutation of gene that regulates cell growth

can also appear as a new mutation

neurogenic tumors from Schwann cells and elsewhere in PNS

NF-1 or NF-2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

NF-1

A

chromosome 17, more common

cutaneous and subQ neurofibromas on trunk and elsewhere

skeletal lesions (scoliosis)

neuro-endocrine tumors (polychromocytoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

NF-2

A

chromosome 22

tumors of acoustic nerve (vestibulocochlear) VIII

headache, hearing loss, tinnitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

do autosomal dom. or rec. skip generations?

A

recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

homozygous recessive disorders

A

often involve enzyme deficiencies

if both parents are carriers, 1/4 kids have disease, 1/2 are carriers

incest increases risk

heterozygotes may or may not be abnormal but will not have the disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

phenylketonuria (PKU)

A

autosomal recessive deficiency is hepatic enzyme phenylalanine hydroxylase (phenylalanine to tyrosine)

phenylalanine builds up in the blood

multiple defects possible, some only cause mild disease

35
Q

diagnosis, symptoms, and treatment of PKU

A

measure serum phenylalanine

mental retardation if untreated

restrict phenylalanine in infants/pregnant women

36
Q

Tay-Sachs disease

A

autosomal recessive lysosomal storage disease

caused by absense of enzyme that metabolizes gangliosides in cell membrane

lipids (gangliosides) accumulate in cells of the brain

causes deterioration in mental function and death by 4 years of age

37
Q

X-linked traits

A

on x chromosome and often recessive

if recessive more common in males than females

males transmit gene only to daughters

females transmit gene equally to sons and daughters

38
Q

hemizygous

A

males, x-linked trait term

39
Q

p arm is long or short?

A

short

40
Q

q arm is long or short?

A

long

41
Q

genomic imprinting

A

some genes inherited from both parents but only the allele from 1 parent is expressed

non-expressed alleles can be passed on and expressed in later generations

DNA is modified by methylation –> causes gene to not be expressed

42
Q

paternal imprinting

A

allele from father is not expressed due to methylation

43
Q

maternal imprinting

A

allele from mother is not expressed due to methylation

44
Q

Angelman syndrome

A

paternal imprinting

Del 15q12 –> loss of ubiquitin path gene

hyperactivity, autism, seizures

45
Q

Prader-Willi

A

maternal imprinting

46
Q

triplet repeat mutation example

A

fragile X syndrome (also Huntington)

mental retardation and distinct facial features (prominant jaws, large ears)

mutation of RNA binding protein found on X chromosome

expansion of CGG repeats

more common and severe in males

47
Q

triplet repeat explanation

A

DNA has areas of repeat sequence

chromosomes don’t line up correctly

if you get too many repeats, you get the disease

48
Q

mitochondrial gene disorders

A

mitochondria contain genes for oxidative phosphorylation

inherited from mother (most mitochondria in egg, not sperm) only to 100% of offspring

mostly impacts tissues with high metabolic rate

49
Q

multifactorial genetic disorders

A

caused by more than 1 gene and environmental factors

inheritance patterns are less clear cut, and it’s hard to predict phenotypes

risk greater if a close relative has the disorder

the closer the relative the greater the risk

50
Q

cleft lip/palate

A

multifactorial genetic disorder

varies greatly in severity of expression – could have just lip or palate

commonly produces speech and feeding problems

51
Q

during meiosis, diploid chromosome number is reduced to _____

A

haploid

fertilization reestablishes the diploid genome

52
Q

mosaic

A

errors early in mitotic development

some daughter cells are normal and some are not

how harmful depends on the activity of the cell (less than 5% is not bad, 75% could be bad)

53
Q

aneuploidy

A

abnormal chromosome number

gametes may lack a chromosome or have 2 copies

caused by nondisjunction (chromatids do not separate in meiosis II)

54
Q

monosomy

A

1 copy of a chromosome post-fertilization

55
Q

triosmy

A

3 copies of a chromosome post-fertilization

56
Q

breaks in chromosomes can produce

A

structural abnormalities

parts either deleted or rearranged

causes are x-rays, chemicals, viruses

57
Q

deletion

A

part of a chromosome is lost

58
Q

translocation

A

material moves from 1 chromosome to another

balanced: no material lost

Robertsonian: short arms lost… 14 & 21 can –> DownS 5%

59
Q

isochromosomal translocation

A

during meiosis 1, two chromatids connect

short and long arms fuse

2 chromatids separate in meiosis 2

60
Q

inversion

A

part of chromosome inverted

61
Q

ring formation

A

single chromatid’s ends unite to form a ring

62
Q

consequences of chromosomal abnormalities

A

depends on how much genetic material is affected

cells may undergo apoptosis

can contribute to cancer

in gametes can produce congenital defects

63
Q

down syndrome causes & risk factors

A

trisomy 21 (95%)

robertsonian translocation of 14 & 21 (5%)

older maternal age (oogenesis arrest in diplotene phase)

64
Q

down syndrome symptoms

A

variable level of MR

characteristic facial features, poor growth, protruding tongue, hypotonia

heart & GI defects

80% of dementia in aduthood

65
Q

down syndrome screening and definitive test

A

screening: low alpha-fetoprotein, high HCG, low unconjugated estriol
tests: aminocentesis, chorionic villus sampling, umbilical cord blood sampling

66
Q

what causes dementia in down syndrome

A

beta-amyloid plaques – breakdown of APP on chromo 21

3 copies so can’t make more APP + more broken down

67
Q

turner syndrome

A

x-chromosome monosomy 45, X most common

mosaicism also possible (45, X or 46, XX)

short stature female without secondary sex characteristics or menstruation

congenital cardiac and renal abnormalities

68
Q

turner syndrome treatment

A

growth hormone and estrogen therapy in early childhood

69
Q

Klinefelter’s syndrome

A

47, XXY or 48, XXXY

male phenotype with deficient secondary sexual development and infertility

tall

androgen therapy

70
Q

each ____ _____ is vulnerable at different times during development

A

organ system

71
Q

teratogenic agents

A

environmental agents that cause abnormal embryonic development

radiation: skeletal/neruo abnormalities
chemicals: Hg, ETON, cocaine, anti-cancer meds, thalidomide

folic acid deficiency –> neural tube defect

infectious agents: toxoplasmosis (protozoa in cat litter), rubella, other viruses

72
Q

fetal alcohol syndrome

A

drug induced developmental abnormality caused by EtOH consumption during pregnancy

physical, cognitive, and behavioral abnormalities

growth retardation, developmental delay, characteristic facial features

severity determined by amount of EtOH consumed, and at what time during pregnancy

73
Q

goals of prenatal screening

A

detect fetal abnormalities

provide pt info needed to make informed decisions

provide reassurance to members of high-risk groups

74
Q

methods of prenatal screening

A

ultrasound

maternal blood screen

aminocentesis

chorionic villus sample

fetal blood sample

75
Q

it is now possible to detect ____ ____ or ___ ___ in maternal circulation

A

fetal cells or nucleic acids

noninvasive of fetus, early application, paternal DNA easiest to assay

76
Q

ultrasound

A

finds NTD, spina bifida, hydrocephalus, heart defects

77
Q

maternal blood screen

A

AFP (fetal protein) increase in maternal blood in NTD, also HCG for Downs

78
Q

aminocentesis

A

amniotic fluid contains fetal cells

finds chromosomal abnormalities (Downs)

79
Q

chorionic villus sampling

A

fetal tissue for chromosomal and genetic analysis

80
Q

fetal blood sample

A

finds fetal blood abnormalities and infections

81
Q

think mitochondrial disease when ___+ organ systems are involved

A

3+

myoclonic epilepsy with RRFs

82
Q

SRY gene on Y chromosome

A

if nonfunctioning, can be XY and female phenotypically

83
Q

Periods of vulnerability

A

CNS 2-5 wks

Heart 3-6 wks

Extremities/eyes 4-7 wks

External genitalia 6-10 wks

84
Q

Periods of vulnerability

A

CNS 2-5 wks

Heart 3-6 wks

Extremities/eyes 4-7 wks

External genitalia 6-10 wks

Pathophysiology (24 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions