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AU2017 Gen Path Exam 2 > Lecture 1- Genetic Diseases > Flashcards

Lecture 1- Genetic Diseases Flashcards

1
Q

there are … protein-encoding genes in the human genome

A

19,000

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2
Q

… refers to a permanent change in DNA

A

mutations

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3
Q

Mutations affecting germ cells can be..

A

inherited

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4
Q

Mutations affecting somatic cells may result in … or … abnormality

A

tumor

developmental

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5
Q

3 types of mutations

A

point
frameshift
trinucleotide repeat

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6
Q

A … mutation is when a single base is substituted

A

point

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7
Q

A … mutation is when there is an insertion/deletion of 1-2 base pairs

A

frameshift

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8
Q

A …. mutation is when there is amplification of a 3-nucleotide sequence

A

trinucleotide repeat (fragile X syndrome)

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9
Q

3 other types of alterations other than mutations

A

polymorphisms

epigenetic changes

alterations in non-coding RNAs

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10
Q

… disorders are diseases caused by single gene defects and they can be 3 different types:

A

mendelian

autosomal dominant
autosomal recessive
sex-linked (X -linked)

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11
Q

do autosomal dominant disorders usually have outward physical changes?

A

yes but may be delayed onset

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12
Q

In autosomal dominant disorders, …. is when a person has a mutant gene, but doesn’t or only partially expresses it phenotypically

A

reduced or incomplete penetrance

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13
Q

In autosomal dominant disorders, … is when expression can be identified in all affected persons but to differing extents

A

variable expressivity

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14
Q

In autosomal dominant disorders, … is when neither parent is affected of theres no family history

A

new or “de novo” mutation

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15
Q

…. is an autosomal dominant disease with nearly 100% penetrance– and its relatively common (1/… live births) condition

A

Neurofibromatosis

3000

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16
Q

T/F: Neurofibromatosis has highly variable expressivity

A

true

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17
Q

… … disorders is the largest group of mendelian disorders

A

autosomal recessive

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18
Q

affected patients of autosomal recessive disorders are…

A

homozygous

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19
Q

In autosomal recessive disorders, …% of offspring are affected and …% of offsrping are carriers

A

25%

50%

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20
Q

Many AR conditions are enzyme defects, leading to ….

A

metabolic dysfxn

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21
Q

Age of onset for AR is usually… and … penetrance is common

A

early

complete

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22
Q

Sex linked disorders are all on the … chromosome

Y chromosome only has 1 significant gene –

A

X

SRY sex determining region

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23
Q

Most X linked disorders are …

A

recessive

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24
Q

… is the process in which 16 days post conception, most (>75%) of one X chromosome is randomly inactivated (resulting in formation of a Barr body) in all of the cells within the zygote

A

Lyonization

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25
Q

…. is when there is a random inactivation of an abnormally high number of normal X chromosomes resulting in X-linked disease expression in a heterozygous female

A

unfavorable lyonization

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26
Q

… is an autosomal dominant disorder of connective tissue due to mutation of the FBN1 gene, resulting in abnormal fibrillin, a glycoprotein necessary for normal elastic fiber production

A

Marfan syndrome

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27
Q

Someone who has the following traits have what disorder?

tall, thin
abnormally long legs
arachnodactly
dislocation of eye lens
aortic aneurym/dissec.
A

marfan syndrome

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28
Q

At least 6 different types of …. syndrome may exist, probably because this is a problem of collagen synthesis, and there are about 30 different types of collagen

A

Ehlers-Danlos

29
Q

2 syndromes caused by mutations in structural proteins

A

marfan

ehlers-danlos

30
Q

Frequency of familial hypercholesterolemia is 1 in

A

500

31
Q

… is an autosomal dominant disorder that is a mutation of the gene that encodes the LDL receptor

A

familial hypercholesterolemia

32
Q

Patients with familial hypercholesterolemia have multiple… of the skin and premature …

A

xanthomas

atherosclerosis

33
Q

Heterozygotes of FH have a …. increased amount of …

A

2-3x

LDL

34
Q

Homozygotes of FH have over … normal levels of LDL and often die of MI by 20

recent approval of …. to treat homozygous form

A

5x

lomitapide

35
Q

3 diseases caused by mutations in enzyme proteins

A

phenylketonuria
galactosemia
lysosomal storage diseases

36
Q

Phenylketonuria is an autosomal …. disorder that affects 1 in …. caucasian infants

A

recessive

10,000

37
Q

Phenylketonuria is a lack of …. that leads to … and …

A

phenylalanine hydroxylase

hyperphenylalanemia
PKA

38
Q

Affected infants of Phenylketonuria are normal at birth but elevated levels of phenylalanine impair… and … is evident at 6mo. Screening in the US is mandatory

A

brain development

mental retardation

39
Q

treatment of phenylketonuria

A

restricting dietary sources of phenylalanine intake will prevent mental retardation

40
Q

lysosomal storage diseases are by autosomal …. transmission

A

recessive

41
Q

mucopolysaccharide is a …. disease

A

lysosomal storage

42
Q

Mucopolysaccharide storage disease is due to lack of one of the several enzymes necessary to degrade

A

mucopolysaccharides

43
Q

affected patients of mucopolysaccharide of ten have…

A

coarse facial features

cornea clouding

joint stiffness

mental retardation

44
Q

MPS type I disease is called…. and it is caused by a deficiency of …

A

Hurler disease

alpha-L-iduronidase (laronidase)

45
Q

The life expectency of Hurler disease is … if left untreated

A

6-10 years

46
Q

…. or …. may improve outlook of Hurler disease but not all aspects of disease are corrected

A

bone marrow transplant

enzyme replacement

47
Q

Cost of enzyme to trreat hurler disease can be about …. annually

A

300K

48
Q

… is MSP type II and is X-linked and is a deficiency of L-iduronate sulfatase. It is similar to Hurler as far as symptoms go except there is no cornea clouding and is milder overall

A

Hunter disease

49
Q

It’s estimated that 1 in … newborns have a chromosomal abnormality

A

200

50
Q

In as many as … % of 1st trimester spontaneous abortions, the fetus has a chromosomal abnormality

A

50%

51
Q

The term … means a normal chromosome count (2x23=46)

A

euploid

52
Q

The term…. is an increased chromosome count that is a multiple of that normally seen (3x23 or 4x23) and generally results in spontaneous abortion

A

polyploidy

53
Q

Any number that is not an exact multiple of the normal chromosome count is termed …

examples include an extra chromosome (trisomy, 2x23 +1= 47) and absence of a chromosome (monosomy 2x23-1=45)

A

aneuploidy

54
Q

… is transfer of a part of one chromosome to another nonhomologous chromosome (can be reciprocal)

A

translocation

55
Q

… is loss of a portion of a chromosome

A

deletion

56
Q

… is when a chromosome breaks in two points then the released fragment is reunited after a complete turnaround

A

inversion

57
Q

…. is most common of the chromosomal disorders and is associated with advanced maternal age

A

trisomy 21 (downs)

58
Q

If mother is younger than 20 then there is a 1 in … chance of downs

A

1550

59
Q

If mother is older than 45 then there is a 1 in… chance of downs

A

25

60
Q

downs syndrome is due to meiotic non-disjunction of …. during ovum formation

A

chromosome 21

61
Q

Clinical manifestations of downs

A

mental retardation

epicanthic folds (eyes slant down)

flat facial profile

cardiac malformations

increased susceptibility to infection (early perio disease)

large tongue

increased rick (10-20x) of acute leukemia

62
Q

2 cytogenetic disorders involving sex chromosomes

A

Klinefelter syndrome

Turner syndrome

63
Q

… is defined as male hypogonadism that develops when there are at least 2 X chromosomes and one or more Y chromosomes (most are 47 XXY)

A

Klinefelter syndrome

64
Q

The clinical manifestations of Klinefelter syndrome are…

A

increased length of lower limbs

reduced body hair

gynecomastia

taurodontism

65
Q

… is due to partial or complete absence of one of the X chromosomes

A

Turner syndrome

66
Q

Clinical manifestations of turner syndrome

A

Short

Webbing of neck/low posterior hairline

Shield-like chest (broad)

high arched palate

congenital CV malformations

failure to develop secondary sex charac.; primary amenorrhea

67
Q

Indications for prenatal genetic analysis

A

mother older than 34

parent is carrier of a chromosomal translocation or Xlinked disorder

hx of previous child with chromosomal abnormality

68
Q

Indications for genetic analysis postnatally

A

multiple congenital anomalies

unexpl. mental retard, or develop. delay

suspected aneuploidy

suspected sex chrom. abnormality

infertility

multiple spontaneous abortions

AU2017 Gen Path Exam 2 (9 decks)

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