GeneticsHighYields

Question 1

Heteroplasmy

Answer 1

Mix of two types of genetic material

Question 2

Variable expression

Answer 2

The severity of the phenotype varies from person to person. So, one person has a mutationand looks like this. And another has same mutation but looks like that.

Question 3

Incomplete penetrance

Answer 3

Not all those affected will show the phenotype. So, person ha mutation and looks like this, and another has mutation but doesn’t show anything.

Question 4

Loss of hererozygosity

Answer 4

When tumor suppressor gene is mutated, complementary alleles must be deleted or mutated too before person shows disease.

Question 5

Imprinting

Answer 5

Many ways to define it but one way is: momma has gene deleted but baby has papas copy of it, but then, papas copy turns out to be deleted, so baby has no copy after all. Or viceversa. So what baby has depends on whether mutation comes from papa or momma.

Question 6

Classic examples of imprinting. (Two)

Answer 6

Prayer Willi and Angelman syndromes.

Question 7

Angelman Syndrome is ——— imprinting

Answer 7

Maternal

Question 8

Prader willi is example of ——- imprinting

Answer 8

Paternal

Question 9

Pleitropy

Answer 9

Is when a gene has more than one effect

Question 10

Classic example of pleiotrophy

Answer 10

Marfan syndrome - one single gene mutation shows up different ways

Question 11

Anticipation and classic example of it

Answer 11

Severity of disease worsens with each generation. Example is Huntington disease.

Question 12

Mosaicism . Example is?

Answer 12

The presence of Two or more population of cells with different genotypes in one single person. Example: Down’s syndrome.

Question 13

Only one allele is needed for disease expression ? (Type of inheritance)

Answer 13

Autosomal dominant

Question 14

Disease observed in multiple generations

Answer 14

ADominant

Question 15

No skip generation. Skip generations can be seen if decreased penetrance.

Answer 15

ADominant

Question 16

Male and female equally affected

Answer 16

ADominant (autosomal part)

Question 17

Male to male transmission possible and seen

Answer 17

ADominant

Question 18

Relatively rare diseases

Answer 18

ADominant

Question 19

Common pattern of mating: homozygous normal and heterozygous affected

Answer 19

ADominant

Question 20

Rarely: heterozygous mate with heterozygous

Answer 20

ADominant

Question 21

An affected person has at least one affected parent

Answer 21

ADominant

Question 22

In this type of inheritance, what is coded are non catalytic structural proteins

Answer 22

ADominant

Question 23

In this inheritance, late onset phenotype is seen, after puberty

Answer 23

ADominant

Question 24

Occasionally incomplete penetrance

Answer 24

ADominant

Question 25

Often pleiotrophic

Answer 25

ADominant

Question 26

Both mutant alleles must be present for disease expression

Answer 26

aRecessive

Question 27

Affected person must inherit one copy of the disease-causing allele from each parent

Answer 27

ARecesssive

Question 28

Skip generations are seen

Answer 28

ARecessive

Question 29

Typically seen in only one generation of a pedigree

Answer 29

aRecessive

Question 30

Makes and females equally affected

Answer 30

Autosomal

Question 31

Male to male transmission possible

Answer 31

Can be autosomal recessive

Question 32

Typical mating pattern : homozygotes produced by union of two heterozygotes carrier parents (we don’t have te disease, why does our baby have it?)

Answer 32

ARecessive

Question 33

Affected person likely has one homozygous parents and one heterozygous parent

Answer 33

ARecessive

Question 34

Early onset diseases, often seen at birth

Answer 34

ARecessive

Question 35

Most —— diseases affect catalytic proteins (cause enzyme deficiencies)

Answer 35

AReccesive

Question 36

Consanguinity sometimes seen (closely related ancestor most likely have similar genes)

Answer 36

ARecessive

Question 37

All affected are male

Answer 37

X linked recessive

Question 38

No male to male transmission seen

Answer 38

X linked recessive

Question 39

All affected male produce carrier daughters - all their daughters are carriers.

Answer 39

X linked recessive

Question 40

Only one mutant X allele is needed for disease expression

Answer 40

X linked dominant

Question 41

Multiple generations affected, no skin lesions, twice as often in females, no male to male transmission

Answer 41

X linked dominant

Question 42

Affected male passes trait to all daughters (no sons)

Answer 42

X linked dominant

Question 43

Affected female passes trait to both daughters and sons (50% chances)

Answer 43

X linked dominant

Question 44

Variable expression in females

Answer 44

X linked females

Question 45

Non Mendelian fashion inheritance, only maternally inherited

Answer 45

Mitochondrial

Question 46

All offspring of an affected female are affected

Answer 46

Mitochondrial

Question 47

No offspring of affected male are affected

Answer 47

Mitochondrial

Question 48

Neuropathies and myopathies commonly seen

Answer 48

Mitochondrial

Question 49

Job syndrome Mode of inheritance?

Answer 49

AD

Question 50

mOI of li fraumeni

Answer 50

AD

Question 51

MOi of Acute intermittent porphyria

Answer 51

AD

Question 52

MOI of von Hippel lindau

Answer 52

AD

Question 53

MOI of von willenbrand disease

Answer 53

AD

Question 54

Job syndrome is also known as

Answer 54

Hyperimmunoglobulin E syndrome

Question 55

MOI of Marfan syndrome

Answer 55

AD

Question 56

MoI of osteogenesis imperfecta

Answer 56

AD

Question 57

mOI of Soler Weber rendu syndrome

Answer 57

AD

Question 58

MOi of familial hyper cholesterolelmia

Answer 58

AD

Question 59

MOI of Huntington’s disease

Answer 59

AD

Question 60

MOi of hypokalemic periodic paralysis

Answer 60

AD

Question 61

MOi of achondroplasia

Answer 61

AD

Question 62

MOI of adult oolycystic kidney dosease

Answer 62

AD

Question 63

MOi of hereditary spherocytosis

Answer 63

AD

Question 64

MOi of Sturge Weber syndrome

Answer 64

AD

Question 65

MOI of tuberous sclerosis

Answer 65

AD

Question 66

MOI of neurofibromatosis

Answer 66

AD

Question 67

MOi of myotonic dystrophy

Answer 67

AD

Question 68

MOI of familial adenomatous polyposis

Answer 68

AD