Brainscape's Knowledge GenomeTM

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


See full index

Hdfs 314 > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

genes alone or in combination with environmental factors can

A

place children at increased risk for many developmental disorders

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

developmental disorders

A

the human genome and its implications for the origins of developmental disabilities

errors in mitosis and meiosis

differences and similarities among autosomal recessive, autosomal dominant, and x-linked genetic disorders

epigenetics, genomic imprinting, and copy number variation

epigenetics, genomic imprinting, and copy number variation

ways genes can be affected by the environment

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

cells are divided into two compartments

A

the nucleus and the cytoplasm

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

red blood cells

A

only cells that do not have a nucleus

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

nucleus contains

A

chromosomes (structures that contain the genetic code DNA)

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

each chromosome contains

A

hundreds of units of heredity (genes)

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

nucleus houses blueprint for

A

organisms’ growth and development

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

cytoplasm manufactures products needed for

A

organism’s development and functions

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

a defect within the cell structure can result in a

A

genetic disorder

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

each human cell contains

A

46 chromosomes that direct each cell’s activites

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

the 46 chromosomes are organized into

A

23 pairs

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

egg and sperm cells each contain only

A

23 chromosomes

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

egg and sperm cells fuse to produce a fertilized egg that has

A

46 chromosomes

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

the 23rd pair of chromosomes consists of

A

X and Y chromosomes (sex chromosomes)

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

two kinds of cell division

A

mitosis and meiosis

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

mitosis

A

occurs in all cells

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

meiosis

A

occurs only in germ cells to create sperm and eggs

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

during cell division in meiosis

A

chromosomes pairs intertwine and may cross over and exchange genetic material

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

crossing over (or recombination) of chromosomes

A

may result in disorders
allows mutual transfer of genetic information

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

nondisjunction

A

chromosomes divide unequally

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

long DNA structures are called

A

chromosomes

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

DNA double helix is built from four bases

A

adenine
cytosine
guanine
thymine

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

DNA to RNA

A

transcription

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

RNA to protein

A

translation

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

polymorphism

A

a variation in DNA sequence that has no adverse effect

26
Q

aneuploidy

A

more or fewer chromosomes than the typical number

27
Q

deletion

A

part of a chromosome is missing, or part of the DNA code is missing

28
Q

inversion

A

when a chromosome breaks, and the price of the chromosome turns upside down and reattaches itself

29
Q

inversion may or may not cause birth defects depending on their

A

exact structure

30
Q

translocation

A

a rearrangement of a chromosome segment from one location to another either within the same chromosome or to another

31
Q

balanced translocation

A

the DNA is equally exchanged between chromosomes, and none is lost or added

32
Q

a parent with a balanced translocation is healthy but he or she may be at risk for

A

passing unbalanced chromosomes in a pregnancy

33
Q

robertsonian translocation

A

a balanced translocation in which one chromosome joins the end of another chromosome

34
Q

mosaicism

A

the presence of two or more chromosome patterns in the cells of a person, resulting in two or more cell lines (some with 46 others with 47)

35
Q

chromosomal gain

A

down syndrome
when nondisjunction occurs during the first meiotic division both copies of chromosome 21 end up in one cell
child ends up with 47
cells contain three copies of chromosome 21

36
Q

chromosomal loss

A

turner syndrome
one of the sex chromosomes are not transferred leaving a single X chromosome or 45 total
only occurs in females - single x chromosome and no second x or y chromosome

37
Q

deletion

A

part of a chromosome is missing, or part of the DNA code is missing

38
Q

angelman syndrome

A

a section of chromosome 15 is missing or silenced

39
Q

Cri-du-chat syndrome

A

a section of chromosome 5 is missing

40
Q

mosaicism

A

the presence of two or more chromosome patterns in the cells of a person resulting in two or more cell lines (some 46 others 45)

41
Q

hemophilia

A

a blood clotting disorder linked with an inversion on the X-chromosome

42
Q

likelihood of mutations increases with the

A

size of the gene

43
Q

point mutations

A

single base pair substitutions

44
Q

insertions and deletion

A

of one or more nucleotide bases

45
Q

fragile x syndrome

A

most common form of inherited intellectual disability

30% also have autism

1 in every 3600 males, 1 in 5000 females

repetitive behaviors

physical features: elongated face, large ears, flat feet, low muscle tone, and large testes

46
Q

role of FMRP in humans

A

FMRP is widely expressed with higher concentrations in neurons and testes
FMRP is a translation regulator
Down regulates select RNA messages
Exact roll/actions of FMRP are debated

47
Q

role of FMRP in mice

A

dendrite malformation
synaptic malformation
behavioral disorders
learning deficits
seizures

48
Q

fragile x-associated tremor/ataxia syndrome

A

neurodegenerative disorder
tremors, problems with walking/balance
30-75% of premutation carriers
risk increases with age
males over 50 years of age

49
Q

fragile x-associated primary ovarian insufficiency

A

premature menopause
20% of women with premutation
risk for FXPOI greater in permutations under 100 CGG repeats

50
Q

dominate gene inheritance

A

marfan syndrome, huntingtons disease, tuberous sclerosis

51
Q

recessive gene inheritance

A

cystic fibrosis, sickle cell anemia, tay sachs

52
Q

within dominate and recessive gene inheritance patterns

A

an individual may be born with a single gene disorder referred from Mendelian traits

53
Q

autosomal domain disorders

A

over 1000
1 in 200 births
single abnormal allele
affect equally
family history

54
Q

autosomal recessive disorders

A

over 1000
1 in 2000 to 1 in 200,000
abnormal gene copy from both parents
both parents are carriers
one mutated one dominant gene each

55
Q

de novo

A

father has mutation on a single sperm cell and transmits it to the child

mutation occurs in zygote within first few cell divisions

heterozygous

56
Q

angelman syndrome

A

most cases not inherited
caused by a deletion in maternal chromosome 15 or by parental uniparental disomy

57
Q

epigenetics

A

-changes in gene expression without changes in DNA sequence
-abnormalities may result from dysfunction of certain enzymes, genomic imprinting, and triplet repeat copy number variation

58
Q

clear example of environment

A

rat licking experiment
licking - arousal (via adrenalin) - thyroid - neuro-chemical signal (serotonin) - released onto neuropathways

59
Q

male child (famine between 9-12 years)

A

lower risk in children and grandchildren for heart disease and diabetes and offspring lived longer

60
Q

male child (bountiful food between 9-12 years)

A

higher risk for heart disease and diabetes in children and grandchildren

Hdfs 314 (5 decks)

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