Genetics

Question 1

How many pairs of chromosomes in humans?

Answer 1

23

Question 2

How many pairs are autosomal chromosomes? How many are sex chromosomes?

Answer 2

22

1

Question 3

Karyotype

Answer 3

visual representation of chromosomes arranged in order of size.
used in diagnosis of chromosomal disorders

Question 4

Epigenetic changes

Answer 4

heritable changes in gene expression that do not involve changes in genetic code

Question 5

Epigenetic changes include

Answer 5

DNA methylation

modification of histones

Question 6

DNA methylation affects… it methylates … and it …. with age.

Answer 6

gene expression
cytosine
decreases

Question 7

There are … locations in the genome where methylation varied the most. About one third of those regions occurred in genes linked to increase risk of …

Answer 7

18,000

cancer

Question 8

DNA methylation greater than …% in children at age 5 was tied to a …% increase in body fat 9-10 years later.

Answer 8

10%

12%

Question 9

DNA mutations can happen

Answer 9

replication or damaged by environmental agents

Question 10

Point mutations affect…

What types?

Answer 10

one nucleotide
substitution mutations
insertion mutations
deletion mutations

Question 11

Dominant allele if present is … expressed. Recessive allele is … only if found on both alleles.

Answer 11

always

expressed

Question 12

How many mutations known for single-gene disorders?

Answer 12

6000

Question 13

Single-gene disorders are classified by inheritance patterns…

Answer 13

autosomal recessive and dominant

Question 14

Autosomal recessive and dominant effect …. children equally.

Answer 14

male and female

Question 15

X-linked single gene disorders are mostly…

Answer 15

recessive

Question 16

Most single-gene disorders affect a ….

Answer 16

single tissue/organ

Question 17

Many single-gene disorders have ….

Answer 17

systemic effects

Question 18

…. must pass on the allele for the disorder to occur in recessive mutations.

Answer 18

both parents

Question 19

Examples of Autosomal recessive disorders

Answer 19

cystic fibrosis
sickle cell anemia
pheynlketonuria
glycogen storage disease

Question 20

Autosomal dominant disorders, inherited of ….

Answer 20

one allele

only one parent needs to pass the allele

Question 21

Examples of autosomal dominant disorders

Answer 21

adult polycystic kidney disease
huntington's chorea
familial hypercholesterolemia
marfan syndrome
neurofibromatosis

Question 22

Neurofibromatosis is an …. disease. Can affect many organs especially… There are two forms…. and … Features are multiple …. under skin; large light-colored ….; many …. in armpits and groin and ….abnormalities.

Answer 22

autosomal dominant disease
nervous sys and skin
NF1 NF2
benign tumors
birthmarks
freckles
skeletal

Question 23

X-linked disorders recessive is where the allele is carried on X chromosome but not Y. In males they will be … and females will be affected if … and carriers is… Examples…

Answer 23

affected
heterozygous
homozygous
duchennes muscular dystrophy
hemophilia A

Question 24

Fragile X syndrome is where the affected chromosomes appears… most … genetic cause of intellectual disability and cognitive defects. Effects are … and related to … of allele.

Answer 24

broken
common
variable
extent of mutation

Question 25

Fragile X syndrome ... are more affected.

Answer 25

boys

Question 26

Chromosomal disorders usually from error in ... chromosomal mutations can be from...

Answer 26

``` meiosis deletions duplications inversions insertions translocations ```

Question 27

Chromosomal disorders examples

Answer 27

down syndrome turner triple X klinefelter syndrome