1.4 Biochem Genetics

Front 1

Alkaptanuria

mode of inheritance?

disease?

Back 1

Autosomal Recessive

Metabolic disease --urine turns dark

Front 2

Down syndrome is caused by ?

Back 2

Trisomy 21

Front 3

In gamete cells--

how many copies of each chromosome are present?

Back 3

one copy

1-22
and a X or a Y

Front 4

? is the expression at the DNA level at a SPECIFIC LOCUS

Back 4

Genotype

Front 5

? is DIFFERENT ALLELES at the SAME LOCUS

Back 5

Heterozygous (genotype)

Front 6

? is the expression of the visible physical characteristics of a genotype

Back 6

phenotype

Front 7

True or False

Different mutations in the SAME GENE cause the SAME disorders or syndromes

Back 7

FALSE

causes DIFFERENT disorders / syndromes

Front 8

the phenomenon that there is more than one cause for a single entity/condition

Back 8

heterogeneity

Front 9

What are the 2 genes implicated in causing TUBEROSCLEROSIS

Back 9

TSC1

TSC2

Front 10

What are the genes implicated in causing BREAST CANCER

Back 10

BRCA1

BRCA2

Front 11

True or False

Mutations in DIFFERENT GENES can cause the SAME disease

Back 11

True

ex: BRCA1 and BRCA2 both cause hereditary breast and ovarian cancer. both are on different chromosomes

Front 12

What chromosome is BRCA1 found on?

Back 12

17

Front 13

What chromosome is BRCA2 found on?

Back 13

13

Front 14

the clinical features shown in AUTOSOMAL DOMINANT disorders that shows striking variation from person to person and within the same family

Back 14

Variable Expressivity

Front 15

Give some examples VARIABLE EXPRESSIVITY

Back 15

NF1

Marfan Syndrome

Tuberosclerosis

Front 16

Penetrance is a ? Variability

Back 16

Phenotypic

Front 17

a trait that is NOT expressed in the phenotype of a gene carrier

Back 17

INCOMPLETE penetrance

Front 18

a genetic trait that is EXPRESSED in the PHENOTYPE

Back 18

COMPLETE penetrance

Front 19

What are some examples of HIGHLY PENETRANT mutations?

Back 19

achondroplasia

Neurofibromatosis Type I

Front 20

what is the indicator that a NEW mutation has occurred?

Back 20

no family history

Front 21

heterozygous individuals for certain AUTOSOMAL DOMINANT conditions may lack the presence of a mutation and be undetected

this is called...?

Back 21

reduced penetrance

Front 22

when an autosomal dominant condition skips a generation what has most likely happened?

Back 22

reduced penetrance

--due to modifying affects of other genes or environmental factors

Front 23

a patient with ACHONDROPLASIA is more likely have gotten the disease from?

Back 23

most like a NEW MUTATION

De Novo

--80% have normal statured parents

Front 24

Gorlin Syndrome is more likely to have been inherited or a new mutation?

Back 24

inherited from parents

20%-30% are denovo

Front 25

ACHONDROPLASIA

caused by ?

how is it spread?

Back 25

single gene mutation on FGFR3

Autosomal Dominant

Front 26

True or False

homozygous form of gene mutation in FGFR3 seen in ACHONDROPLASIA is lethal

Back 26

TRUE

Front 27

What is Thanatophoric Dwarfism caused by?

Back 27

Homozygous FGFR3

LETHAL

Front 28

How is HUNTINGTON's spread?

Back 28

Autosomal Dominant

Front 29

How is Von Hippel-Lindau spread?

Back 29

Autosomal Dominant

Front 30

How is BRCA1 and BRCA 2 spread?

Back 30

Autosomal Dominant

Front 31

What are the symptoms for MARFAN syndrome?

What would you test?

Back 31

Arachnodactyly
Scoliosis
Tall Stature
lens dislocation
high myopia
asigmatism
dilated aortic root
aortic aneurysm


FIBRILLIN 1 testing

Front 32

What are the symptoms of NEUROFIBROMATOSIS TYPE I

diagnosis on at least 2 of the symptoms

Back 32

Cafe-Au-Lait macules/spots

Axillary freckling

Lisch Nodules

Neurofibromas

sphenoid wing dysplasia

FIRST DEGREE RELATIVE with NF1

Front 33

What are some complication of NF1?

Back 33

HYPERtension

1/3 learning difficulties

scoliosis

risk of tumors

pseudoarthroses

Front 34

What is the recurrence risk of NF1 reoccur if the parents are affected?

unaffected?

Back 34

50%


low recurrence rate

Front 35

Sickle Cell Disease

how is it passed?

Back 35

autosomal recessive

Front 36

Cystic Fibrosis

how is it passed?

Back 36

autosomal recessive

Front 37

RETINOBLASTOMA is passed how?

Back 37

autosomal recessive

Front 38

Colon Cancer associate with MYH is passed how?

Back 38

autosomal recessive

Front 39

How do you test for CYSTIC FIBROSIS?

Back 39

Delta F508 (75% of mutations)

Front 40

What are the features of CYSTIC FIBROSIS?

Back 40

psych problems
sinusitis polyps
lung infection / bronciectasis / respiratory failure
liver disease
pancreatic insufficiency (CF-DM)
male infertility
osteoporosis
arthropathy
vasculitis
IBD /cancer
DIOS
G-O reflux
Cor pulmonale

Front 41

Hemaphilia A and B are passed how?

Back 41

X - linked recessive

Front 42

Duchenne and Becker Muscular Dystrophy is passed how?

Back 42

X - linked recessive

Front 43

Colour Blindness is passed how?

Back 43

X - linked recessive

Front 44

Ocular albinism is passed how?

Back 44

X - linked recessive

Front 45

Most metabolic diseases are passed how?

Back 45

Autosomal Recessive


--some are passed X-linked recessive

Front 46

True or False

In X-linked dominant mutations --- females are unlikely or mildly affected.

Back 46

True

Front 47

True or False

X-linked Dominant is Lethal in males

Back 47

true

Front 48

What is the risk of X-linked Dominant being passed to offspring from carrier mothers?

Back 48

1 in 2

Front 49

INCONTINENTIA PIGMENTI -- is passed via ?

--skin condition that leads to unusual blistering and changes in skin color.

Back 49

X-Linked Dominant

Front 50

True or False

Thiamine is one of the 4 bases.

Back 50

FALSE

Thymine

dont you dare miss this. THIAMINE is vitamin B1

Front 51

DNA helix wraps around a histone protein to form ?

Back 51

Nucleosomes

Front 52

Nucleosomes pack together forming ?

Back 52

Chromatin Fiber

Front 53

Chromatin condensation forms ?

Back 53

Chromosome

Front 54

What are the STOP codons?

Back 54

UAA
UAG
UGA

Front 55

What are the START codon?

Back 55

AUG

Front 56

? is a SEQUENCE change with no such consequence. often defined as a variant present in >1% of the population

Back 56

POLYMORPHISM

(sequence variant)

Front 57

True or False

All sequence changes are pathogenic

Back 57

FALSE

NOT ALL SEQUENCE CHANGES ARE PATHOGENIC

Front 58

? is a sequence change with a PATHOGENIC or at least a PHENOTYPIC consequence

Back 58

Mutation

Front 59

What are the 2 Mutation classes?

Back 59

Chromosome Abnormalities

DNA Abnormalities

Front 60

What are the 5 DNA abnormalities

Back 60

Base Substitution
Deletion
Insertion/Duplication
Inversion
Methylation Defect

Front 61

What are the 3 Chromosome abnormalities?

Back 61

Numerical

Structural (translocation, inversion, deletion, insertion)

Uniparental Disomy

Front 62

What is UNIPARENTAL DISOMY?

Back 62

receiving 2 chromosome from one parent and none from the other parent

Front 63

What is a TRANSITION base substitution?

Back 63

pyrimidine <-> pyrimidine T:C

purine <-> purine A:G

Front 64

What is a TRANSVERSION base substitution?

Back 64

purine <-> pyrimidine (A:T G:C A:C G:T)

Front 65

If there is a base substitution and the amino acid is unchanged the effect is called

Back 65

Synonymous / Silent

Front 66

If a base substitution happens and a amino acid is switched what is the effect called?

Back 66

Missense

Front 67

If a base substitution happens and a STOP CODON is created the effect is called?

Back 67

Nonsens

Front 68

number of affected bases is not a multiple of 3 --causing all amino acids down stream to be altered

Back 68

Frame-Shift

Front 69

a change in a single base pair is called...?

Back 69

point mutation

Front 70

? are coding DNA

? are intervening sequences that are non-coding

Back 70

Exons ---code


Introns ---non-code

Front 71

? is a HETEROZYGOUS STATE where half of the normal product is made and can result in phenotypic effect---

usually autosomal dominant

Back 71

Haploinsufficiency

Front 72

True or False

mutations can cause proteins to GAIN a new function

Back 72

TRUE

ex: huntingtons

Front 73

What type of mutations are most likely pathogenic?

Back 73

nonsense

frameshift deletion or insertion

mutation of conserved splice site

major rearrangements

Front 74

What type of mutations are most likely NOT pathogenic?

Back 74

missense

silent (may affect splicing)

in-frame deletions or insertions (unless very large)

INTRONIC mutations (mutation in intron)

Front 75

? are many genes that each make a small contribution to the phenotype

(non mendelian inheritance)

Back 75

Polygenic Traits

Front 76

? are when few genes make a MAJOR contribution to the phenotype in a permissive environment

(non mendelian inheritance

Back 76

Multifactorial traits


ex: spina bifida, MTHFR and folate deficiency

Front 77

? is a mutation that affects only some cells int he body with a variable phenotype

Back 77

Mosaicism

Front 78

? in an unaffected parent may cause more than one affected child with OSTEOGENESIS IMPERFECTA TYPE II --a lethal autosomal dominant trait

Back 78

Gonadal Mosaicism

Front 79

how is DOWN SYNDROME passed ?

Back 79

Chromosome TRANSLOCATION

Front 80

extraction of DNA from blood

--sample is to be stored with ?

extract DNA from ? cells

Back 80

EDTA bottle

White Blood cell

Front 81

? is a HETEROZYGOUS STATE where half of the normal product is made and can result in phenotypic effect---

usually autosomal dominant

Back 81

Haploinsufficiency

Front 82

True or False

mutations can cause proteins to GAIN a new function

Back 82

TRUE

ex: huntingtons

Front 83

What type of mutations are most likely pathogenic?

Back 83

nonsense

frameshift deletion or insertion

mutation of conserved splice site

major rearrangements

Front 84

What type of mutations are most likely NOT pathogenic?

Back 84

missense

silent (may affect splicing)

in-frame deletions or insertions (unless very large)

INTRONIC mutations (mutation in intron)

Front 85

? are many genes that each make a small contribution to the phenotype

(non mendelian inheritance)

Back 85

Polygenic Traits

Front 86

? are when few genes make a MAJOR contribution to the phenotype in a permissive environment

(non mendelian inheritance

Back 86

Multifactorial traits


ex: spina bifida, MTHFR and folate deficiency

Front 87

? is a mutation that affects only some cells int he body with a variable phenotype

Back 87

Mosaicism

Front 88

? in an unaffected parent may cause more than one affected child with OSTEOGENESIS IMPERFECTA TYPE II --a lethal autosomal dominant trait

Back 88

Gonadal Mosaicism

Front 89

how is DOWN SYNDROME passed ?

Back 89

Chromosome TRANSLOCATION

Front 90

extraction of DNA from blood

--sample is to be stored with ?

extract DNA from ? cells

Back 90

EDTA bottle

White Blood cell

Front 91

How to aplify DNA?

Back 91

PCR polymerase Chain Reaction

Front 92

What type of blotting analysis is used with radioactive probes to identify selected pieces of DNA?

Back 92

SOUTHERN analysis

Front 93

Molecular Technique

--test a sample for the presence or absence of a specific mutation

Back 93

Direct

Front 94

Molecular Techniques

--screen sample for any deviation from the standard sequence

Back 94

Scanning

Front 95

Molecular Techniques

--screens the coding region for premature translation terminating codons introduced by the mutation

Back 95

Protein Truncating Test

Front 96

Molecular Techniques

--enzyme testing

Back 96

metabolic screen

Front 97

What are the 3 types of Genetic testing?

Back 97

Cytogenetic

DNA

Metabolic