Genetics

Question 1

the specific location of a gene on a chromosome

Answer 1

Locus

Question 2

How many chromosomes

Answer 2

46 (23 pairs)

Question 3

a change in some part of the DNA code

Answer 3

Mutation

Question 4

any chromosome that is not a sex chromosome

Answer 4

autosome

Question 5

another name for autosome

Answer 5

somatic cell

Question 6

Meiosis

Answer 6

associated with sex cells

Question 7

a measurable trait an organism has

Answer 7

phenotype

Question 8

X linked is associated with what type of cells

Answer 8

sex

Question 9

autosomal cells are associated with

Answer 9

somatic

Question 10

example: AB blood type

Answer 10

co dominace

Question 11

pink flowers are an example of

Answer 11

mixed dominance

Question 12

the probability that individuals in a population who have a particular gene combination will show the condition

Answer 12

Penetrance

Question 13

the components of the phenotype that are exhibited in an individual

Answer 13

expression

Question 14

Genetic diseases that increase in severity or have earlier onset with each successive generation

Answer 14

Anticipation

Question 15

Most common mutation is

Answer 15

aneuploidy – abnormal number

Question 16

Research pedigree

Generations are given a

Answer 16

roman numerol

Question 17

65% of human monogenic disorders

Answer 17

Autosomal dominant

Question 18

Huntingtons is what type of degree

Answer 18

Autosomal dominant

Question 19

Cystic fibrosis is an example of what type of genetic disease

Answer 19

autosomal recessive

Question 20

5% of human monogenic disorders

Answer 20

X linked

Question 21

25% of human monogenic disorders

Answer 21

autosomal recessive

Question 22

Alport’s Syndrome, Fragile X Syndrome

Answer 22

X-linked dominant

Question 23

Wiskott-Aldrich Syndrome, Duchenne muscular dystrophy

Answer 23

X-linked recessive

Question 24

Caused by interactions of variations in multiple genes and environmental factors

Answer 24

Multifactorial/Complex Disease

Question 25

Most common chromosomal abnormality in live births

Answer 25

Down Syndrome

Question 26

can there be more than one cause of downs

Answer 26

yes

Question 27

of adults with Down syndrome develop Alzheimer disease

Answer 27

1/2

Question 28

40% have cardiac defects 75% hearing loss >50% visual problems 7% have GI defects

Answer 28

downs

Question 29

Edwards Syndrome

Answer 29

Trisomy 18

Question 30

Second most common autosomal trisomy after trisomy 21 that goes to full term

Answer 30

Trisomy 18

Question 31

``` Kidney and heart defects Developmental delay Club foot (Rocker bottom feet) Low set ears, small jaw ```

Answer 31

Trisomy 18

Question 32

Patau syndrome

Answer 32

Trisomy 13

Question 33

abnormal larynx development

Answer 33

Cri-du-Chat Syndrome

Question 34

Extra X chromosome, 47 XXY

Answer 34

Klinefelter’s Syndrome

Question 35

Accounts for many first trimester losses

Answer 35

Klinefelter’s Syndrome

Question 36

Most common sex chromosome aneuploidy in males

Answer 36

Klinefelter’s Syndrome

Question 37

XO

Answer 37

Turner Syndrome

Question 38

``` Short stature Broad chest Webbed neck Amenorrhea Infertility Cardiovascular abnormalities ```

Answer 38

Turner Syndrome

Question 39

Time till death

Answer 39

Average time from symptom onset to death is 15 years

Question 40

Most common form of dementia in older individuals | Dementia

Answer 40

Alzheimer’s Disease

Question 41

Also called early onset AD

Answer 41

Familial Alzheimer’s Disease | Rare - <5% of cases of AD

Question 42

Chromosome 19 apolipoprotein E (APOE) gene

Answer 42

Sporadic Alzheimer’s Disease

Question 43

Up to (WHAT) of breast and ovarian cancers are caused by known predisposing genetic factors

Answer 43

10%

Question 44

on chromosome 17

Answer 44

BRCA1

Question 45

chromosome 13

Answer 45

BRCA2 (MORE DANGEROUS)

Question 46

mutation in APC

Answer 46

Familial adenomatous polyposis

Question 47

Once diagnosis of FAP is established, total colectomy is recommended before age

Answer 47

20

Question 48

Also called Lynch Syndrome

Answer 48

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Question 49

Mutation in F9

Answer 49

hemophilia B (Christmas Disease)

Question 50

Mutation in F8 gene

Answer 50

hemophilia A

Question 51

Clinical manifestations: hemarthrosis (spontaneous bleeding into a joint), bleeding into muscles, and other soft tissues; prolonged bleeding or oozing of blood after injury or surgery

Answer 51

Hemophilia (x linked recessive)

Question 52

Distorts the red blood cell into a crescent shape Abnormally shaped RBCs break down prematurely Mutation on HBB gene

Answer 52

Sickle Cell Disease

Question 53

Genetic mutation: mutation in the CFTR gene

Answer 53

CF

Question 54

Cystic Fibrosis pattern of inheritance

Answer 54

autosomal recessive

Question 55

CF disrupts what channels

Answer 55

chloride

Question 56

Difficulty breathing, infections in lungs Problems with nutrient digestion Buildup of mucous prevents pancreatic enzymes from reaching intestine Failure to thrive, poor growth rate

Answer 56

CF

Question 57

Carrier incidence: 1 in 25

Answer 57

Cystic Fibrosis

Question 58

Causes defects in connective tissue affecting multiple systems

Answer 58

Marfan Syndrome

Question 59

Results from either an inherited mutation or a new mutation of the fibrillin-1 gene (FBN1)

Answer 59

Marfan Syndrome

Question 60

Mode of inheritance: Marfan Syndrome

Answer 60

autosomal dominant

Question 61

Dislocated lens of the eye – vision problems | Aortic aneurysm/dissection

Answer 61

Marfan Syndrome

Question 62

Also called von Recklinghausen disease

Answer 62

Neurofibromatosis Type I

Question 63

Pattern of inheritance: Neurofibromatosis Type I

Answer 63

autosomal dominant

Question 64

Hyperpigmented skin lesions called café-au-lait spots | Flat patches on skin darker than surrounding area

Answer 64

Neurofibromatosis Type I

Question 65

Clusters of fluid filled sacs develop in kidneys Affects ability to filter the blood properly Kidneys become enlarged and can fail

Answer 65

Polycystic Kidney Disease

Question 66

Polycystic Kidney Disease- Autosomal dominant

Answer 66

more common type

Question 67

Approximately (WHAT) of all newborns have some birth defect

Answer 67

10%

Question 68

Biggest cause of birth defects

Answer 68

UNKNOWN

Question 69

anything capable of disrupting embryonic or fetal development and producing malformations

Answer 69

Teratogens

Question 70

Critical period for teratogenic effects is

Answer 70

3-13 weeks

Question 71

1st test: baby is

Answer 71

24-36 hours

Question 72

2nd test: 1st office visit

Answer 72

between 5-10 days