Genetic Disorders

Question 1

genes alone or in combination with environmental factors can

Answer 1

place children at increased risk for many developmental disorders

Question 2

developmental disorders

Answer 2

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

Question 3

cells are divided into two compartments

Answer 3

the nucleus and the cytoplasm

Question 4

red blood cells

Answer 4

only cells that do not have a nucleus

Question 5

nucleus contains

Answer 5

chromosomes (structures that contain the genetic code DNA)

Question 6

each chromosome contains

Answer 6

hundreds of units of heredity (genes)

Question 7

nucleus houses blueprint for

Answer 7

organisms’ growth and development

Question 8

cytoplasm manufactures products needed for

Answer 8

organism’s development and functions

Question 9

a defect within the cell structure can result in a

Answer 9

genetic disorder

Question 10

each human cell contains

Answer 10

46 chromosomes that direct each cell’s activites

Question 11

the 46 chromosomes are organized into

Answer 11

23 pairs

Question 12

egg and sperm cells each contain only

Answer 12

23 chromosomes

Question 13

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

Answer 13

46 chromosomes

Question 14

the 23rd pair of chromosomes consists of

Answer 14

X and Y chromosomes (sex chromosomes)

Question 15

two kinds of cell division

Answer 15

mitosis and meiosis

Question 16

mitosis

Answer 16

occurs in all cells

Question 17

meiosis

Answer 17

occurs only in germ cells to create sperm and eggs

Question 18

during cell division in meiosis

Answer 18

chromosomes pairs intertwine and may cross over and exchange genetic material

Question 19

crossing over (or recombination) of chromosomes

Answer 19

may result in disorders
allows mutual transfer of genetic information

Question 20

nondisjunction

Answer 20

chromosomes divide unequally

Question 21

long DNA structures are called

Answer 21

chromosomes

Question 22

DNA double helix is built from four bases

Answer 22

adenine
cytosine
guanine
thymine

Question 23

DNA to RNA

Answer 23

transcription

Question 24

RNA to protein

Answer 24

translation

Question 25

polymorphism

Answer 25

a variation in DNA sequence that has no adverse effect

Question 26

aneuploidy

Answer 26

more or fewer chromosomes than the typical number

Question 27

deletion

Answer 27

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

Question 28

inversion

Answer 28

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

Question 29

inversion may or may not cause birth defects depending on their

Answer 29

exact structure

Question 30

translocation

Answer 30

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

Question 31

balanced translocation

Answer 31

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

Question 32

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

Answer 32

passing unbalanced chromosomes in a pregnancy

Question 33

robertsonian translocation

Answer 33

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

Question 34

mosaicism

Answer 34

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)

Question 35

chromosomal gain

Answer 35

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

Question 36

chromosomal loss

Answer 36

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

Question 37

deletion

Answer 37

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

Question 38

angelman syndrome

Answer 38

a section of chromosome 15 is missing or silenced

Question 39

Cri-du-chat syndrome

Answer 39

a section of chromosome 5 is missing

Question 40

mosaicism

Answer 40

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)

Question 41

hemophilia

Answer 41

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

Question 42

likelihood of mutations increases with the

Answer 42

size of the gene

Question 43

point mutations

Answer 43

single base pair substitutions

Question 44

insertions and deletion

Answer 44

of one or more nucleotide bases

Question 45

fragile x syndrome

Answer 45

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

Question 46

role of FMRP in humans

Answer 46

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

Question 47

role of FMRP in mice

Answer 47

dendrite malformation synaptic malformation behavioral disorders learning deficits seizures

Question 48

fragile x-associated tremor/ataxia syndrome

Answer 48

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

Question 49

fragile x-associated primary ovarian insufficiency

Answer 49

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

Question 50

dominate gene inheritance

Answer 50

marfan syndrome, huntingtons disease, tuberous sclerosis

Question 51

recessive gene inheritance

Answer 51

cystic fibrosis, sickle cell anemia, tay sachs

Question 52

within dominate and recessive gene inheritance patterns

Answer 52

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

Question 53

autosomal domain disorders

Answer 53

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

Question 54

autosomal recessive disorders

Answer 54

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

Question 55

de novo

Answer 55

father has mutation on a single sperm cell and transmits it to the child mutation occurs in zygote within first few cell divisions heterozygous

Question 56

angelman syndrome

Answer 56

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

Question 57

epigenetics

Answer 57

-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

Question 58

clear example of environment

Answer 58

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

Question 59

male child (famine between 9-12 years)

Answer 59

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

Question 60

male child (bountiful food between 9-12 years)

Answer 60

higher risk for heart disease and diabetes in children and grandchildren