MENDELIAN DISORDERS

Question 1

Mutation in single gene with large effects

Answer 1

Mendelian Disorders

Question 2

True or False:
In mendelian disorders, Each person carries 5-8 deleterious genes but recessive that does not result to serious phenotypic abnormalities

Answer 2

True

Question 3

Three patterns of transmittance

Answer 3

1. autosomal dominant
2. autosomal recessive
3. x-linked (sex linked)

Question 4

It is expressed in mathematical terms

Answer 4

Penetrance

Question 5

True or False:
50% penetrance indicates that 50% of those who carry the gene express the trait

Answer 5

True

Question 6

If a trait is seen in all individuals carrying the mutant gene but is expressed differently among individuals, the phenomenon is called ____________

Answer 6

Variable expressivity

Question 7

True or False:
In autosomal dominant, only one allele is needed to manifest

Answer 7

True

Question 8

Origin of autosomal dominant

Answer 8

Some are de novo; manifested in HETEROZYGOUS

Question 9

Origin of autosomal recessive

Answer 9

Do not affect the parents, may manifest in sibling; HOMOZYGOUS

Question 10

True or False
In autosomal recessive, two alleles are needed to manifest

Answer 10

True

Question 11

Origin of X-Linked

Answer 11

Almost all are recessive

Question 12

Clinical features of autosomal dominant

Answer 12

modified by variation in PENETRANCE and EXPRESSIVITY; M=F

Question 13

Clinical features of autosomal recessive

Answer 13

more uniform expression, commonly with complete penetrance

Question 14

Clinical features of x-linked

Answer 14

expressed in males

Question 15

Age of onset in autosomal dominant

Answer 15

delayed

Question 16

age of onset in autosomal recessive

Answer 16

early

Question 17

age of onset in x-linked

Answer 17

any time, depend on disease

Question 18

Type of proteins involved in autosomal dominant

Answer 18

non-enzyme proteins; membrane receptors and structural proteins

Question 19

Type of proteins involved in autosomal recessive

Answer 19

enzyme proteins

Question 20

Type of proteins involved in x-linked

Answer 20

enzyme or structural proteins

Question 21

type of mutation in autosomal dominant

Answer 21

deletion, point, missense mutation; LOF, GOF

Question 22

Type of mutation in autosomal recessive

Answer 22

Splice-site, frameshift, point mutation, deletion, non-functional,
misfolded protein

Question 23

type of mutation in x-linked

Answer 23

Deletions, insertions, non-sense
mutations

Question 24

Example of disorders in AUTOSOMAL DOMINANT

Answer 24

→ Marfan syndrome
→ Ehlers-Danlos
→ Familial Hypercholesterolemia
→ Hereditary Spherocytosis

Question 25

Example of disorders in AUTOSOMAL RECESSIVE

Answer 25

→ Cystic fibrosis
→ Glycogenosis
→ Lysosomal Storage Disease
→ Mucopolysaccharidosis

Question 26

Examples of disorders in X-LINKED

Answer 26

→ Duchene Muscular Dystrophy
→ Fragile X Syndrome
→ Hemophilia A and B

Question 27

There can be about 600 mutations, mostly missense. Involving FBNI gene or Fibrillin-I gene,
encoding fibrillin I protein.

Answer 27

AD- MARFAN SYNDROME

Question 28

it is a component of microfibrils which provides skeleton on which
tropoelastin is deposited to form elastic fibers in various tissues of the body like the aorta, ligaments and ciliary zonules of the eye

Answer 28

Fibrillin I protein

Question 29

Common finding for individuals with Marfan Syndrome

Answer 29

lalagpas yung first digit, the thumb, sa kabilang side.

Question 30

He is an individual with Marfan Syndrome

Answer 30

Abraham Lincoln

Question 31

Diagnosis for Marfan Syndrome

Answer 31

Clinical
Lens dislocation
echocardiography

Question 32

True or False:
Ehlers-Danlos Syndrome is a disorder than encompasses the three patterns of transmittance. They can be transmitted through AR fashion, or sex as a sex-linked disorder

Answer 32

True

Question 33

Common variants of EDS

Answer 33

o COL5A1 and COL5A2 – classical EDS,
Type I and II
o COL3A1 – Vascular type, type IV
o COL1A1 and COL1A2 –arthrochalasia, type VII a, b

Question 34

It may be caused by mutations involving structural proteins or enzymes

Answer 34

EDS

Question 35

Common manifestations involve in EDS

Answer 35

o Skin (hyperextensibility)
o Ligaments
o Joints (hypermobility)

Question 36

1:2,500 livebirths, carrier rate of 1:20. It is also called Mucoviscidosis. it is the most common lethal genetic diseases affecting Caucasians

Answer 36

AR- CYSTIC FIBROSIS

Question 37

This gene regulates Cl channel, K channel, ENaC, gap junction channel and cellular

Answer 37

CFTR (Cystic fibrosis transmembrane conductance regulator)

Question 38

A disorder of ion transport in epithelial cells of exocrine glands and lining epithelial cell of the
respiratory, GI and reproductive tracts

Answer 38

AR- CYSTIC FIBROSIS

Question 39

What is the gold standard in the diagnosis of mucoviscidosis?

Answer 39

DNA sequencing/ gene sequencing

Question 40

Hereditary deficiency of one of the enzymes involved in glycogen synthesis or degradation

Answer 40

AR- GLYCOGENOSIS

Question 41

Three subgroups of glycogenosis

Answer 41

o Hepatic
o Myopathic
o Glycogen

Question 42

Individuals with ____________ has deficiency of glucose-6-phosphatase

Answer 42

Hepatic Forms

Question 43

enlargement of heart

Answer 43

cardiomegaly

Question 44

It is the deletion of Xp21

Answer 44

SLD- DUCHENE MUSCULAR DYSTROPHY

Question 45

muscles that are the first to weaken in duchene muscular dystrophy

Answer 45

pelvic girdle muscles

Question 46

Disease that is closely associated to Duchene Muscular Dystrophy

Answer 46

Becker Muscular Dystrophy

Question 47

Second leading cause of mental retardation and is the primary cause of inherited mental retardation

Answer 47

SLD- FRAGILE X SYNDROME

Question 48

In Fragile X syndrome, the break or gap is the X chromosome is due to:

Answer 48

CGG sequence

Question 49

True or False
A normal transmitting male and carrier female have 55-200 repeats (pre-mutations) whereas affected individuals, 200-4000 repeats (full
mutation)

Answer 49

True

Question 50

True or False:
Clinical features of fragile X syndrome worsen with each generation (anticipation)

Answer 50

True