8/17 - Genetic Disorders

Question 1

when an affected person marries an unaffected one, every child has what chance of having the disease

Answer 1

one chance in two

Question 2

autosomal dominant disorders of the:

nervous system

Answer 2

1. huntington disease
2. neurofibromatosis
3. myotonic dystrophy
4. tuberous sclerosis

Question 3

autosomal dominant disorders of the:

urinary system

Answer 3

polycystic kidney disease

Question 4

autosomal dominant disorders of the:

GI

Answer 4

familial polyposis coli

Question 5

autosomal dominant disorders of the:

hematopoietic system

Answer 5

1. hereditary spherocytosis
2. von Willebrand disease

Question 6

autosomal dominant disorders of the:

sksletal system

Answer 6

1. MARFAN SYNDROME
2. EHLERS-DANLOS SYNDROME
3. osteogenesis imperfecta
4. achondroplasia

Question 7

autosomal dominant disorders of the:

metabolic system

Answer 7

1. FAMILIAL HYPERCHOLESTEROLEMIA
2. acute intermittent polyphyria

Question 8

autosomal recessive (AR) disorders occur when? does it affect men or women more?

Answer 8

occur when both alleles at a given gene locus are mutated. both males and females equally affected

Question 9

autosomal recessive disorders of the:

metabolic system

Answer 9

1. LYSOSOMAL STORAGE DISEASE
2. GLYCOGEN STORAGE DISEASE
3. cystic fibrosis
4. phenylketonuria
5. galactosemia
6. homocystinuria
7. alpha-1 antitrypsin deficiency
8. wilson disease
9. hemochromatosis

Question 10

autosomal recessive disorders of the:

hemaopoietic disease

Answer 10

sickle cell and thalassemia

Question 11

autosomal recessive disorders of the:

endocrine

Answer 11

congenital adrenal hyperplasia

Question 12

autosomal recessive disorders of the:

skeletal system

Answer 12

1. EHLERS-DANLOS
2. alkaptonuria

Question 13

what is the only syndrome that is AR or AD

Answer 13

skeletal Ehlers-Danlos syndrome

Question 14

autosomal recessive disorders of the:

nervous sytem

Answer 14

1. neurogenic muscular atrophies
2. Friedreich ataxia
3. spinal muscular atrophy

Question 15

B)

___ disorders are transmitted by heterozygous female to their son, who manifest the disease

Answer 15

X-linked

Question 16

in x-linked disorders, are male or female carriers procted because of random inactivation of one x-chromosome

Answer 16

FEMALE

Question 17

B) sons of heterozygous women have what chance of receiving mutant gene

Answer 17

one of two

Question 18

B) T/F: affected male does not transmit disorder to his sons but all daughters are carriers

Answer 18

TRUE

Question 19

X-linked disorder of the nervous system

Answer 19

fragile x syndrome

Question 20

what are disorders associated w/ defects in structural proteins

Answer 20

1. Marfan syndrome
2. Ehlers Danlos syndrome

Question 21

what disease:

Disorder of connective tissue; manifested
principally by changes in the skeletal, eyes, and
cardiovascular system
Prevalence is estimated to be 1 in 5000

Answer 21

Marfan syndrome

Question 22

is marfan syndrome mainly AD or AR

Answer 22

AD

Question 23

since only 70-80% of marfan syndrome is familial, how do the others arise?

Answer 23

sporadic and arise from new mutations

Question 24

marfan syndrome is caused by mutaiton in ___ encoding ___ which is required for structural integrity of connective tissue

Answer 24

FBN1 gene; fibrillin

Question 25

what disease:

tall stature, long fingers, bilateral subluxation of lens, mitral valve polapse, aoric aneurysm, and aortic dissection

Answer 25

marfan syndrome

Question 26

oral features of marfan syndrome

Answer 26

1. incompetent lips
2. retrognathia
3. narrow, high arched palate w/ crowding

Question 27

ppl w/ Marfan syndrome have greater risk for what oral features

Answer 27

1. dental caries
2. higher pulpal calcifications and gingival inflammation
3. TMJ subluxation

Question 28

is ehlers-danlos AR or AD

Answer 28

either or

Question 29

what disease:

Comprise a clinically and genetically heterogenous group of disorders that result from some mutations in the genes that encode collagen, enzymes that modify collagen, and less commonly other proteins present in the extracellular matrix

Answer 29

ehlers-danlos syndromes

Question 30

what disease:

charaterized by defects in collagen synthesis or assemly

Answer 30

ehlers-danlos

Question 31

what disease:

Clinical features may include fragile
hyperextensible skin vulnerable to trauma,
hypermobile joints, and ruptures involving
the colon, cornea, and large arteries

Answer 31

Ehlers-danlos

Question 32

is wound healing poor or good in ehlers-danlos

Answer 32

POOR

Question 33

oral manifestations of pt with Ehlers-Danlos

Answer 33

1. perio disease at early age
2. easy bruising and bleeing
3. recurrent subluxation of TMJ
4. Gorlin sign - touch tip of nose with tongue

Question 34

what is gorlin sign

Answer 34

touch the tip of nose with tongue (seen in less than 01$ of population)

Question 35

what are disorders associated w/ defects in receptor proteins

Answer 35

familial hypercholesterolemia (FHCL)

Question 36

FHCL is caused by what gene mutations

Answer 36

1. LDL (85%)
2. ApoB protein
3. activating mutations of PCSK9

Question 37

is FHCL AD or AR

Answer 37

AD

Question 38

Patients develop ___
because of impaired transportation of LDL into
the cells

Answer 38

hypercholesterolemia

Question 39

! in heterozygotes of FHCL, they have increased risk of what?

Answer 39

atherosclerosis, xanthomas, and coronary arteries

Question 40

do homozygote or heterozygote FHCL have greater increase in serum choleserol and higher frequency of ichemic heart disease

Answer 40

homo

Question 41

in homozygous FHCL, the aortic root is prone to develop ___ at an early age

Answer 41

atherosclerotic plaque