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M2M Unit II > X-linked diseases > Flashcards

Flashcards in X-linked diseases Deck (36):
1

What are the clinical manifestations of Lesch-Nyhan Syndrome?

neuro and behavioral abnormalities; overproduction of uric acid; self injury

1

What is the fitness of Duchenne Muscular Dystrophy?

0%

2

What is the incidence rate of Lesch-Nyhan Syndrome?

1:380,000

2

What is not made in Duchenne Muscular Dystrophy?

dystrophin

3

What is the gene mutation in Lesch-Nyhan Syndrome? Why does uric acid build up?

HPRT1; purines are recycled

4

What is the incidence rate for Rett Syndrome?

1:10,000 females (males don't survive)

5

What are the clinical manifestations in Fragile X?

ID, large ears, long face, macroorchidism, autism, hand flapping, aggression

5

What is the normal CGG repeat range?

6-45

6

What are the clinical manifestation of Rett Syndrome?

loss of coordination and communication skills; abnormal hand flapping; failure to thrive; seizures

7

Clinical manifestations of Hypophosphatemic Rickets?

bone deformities, short stature, hypophosphatemia

8

There are no _____ transmissions in X-linked disorders.

male to male

9

What are the signs and symptoms of Becker Muscular Dystrophy?

same as DMD but later onset (some Dystrophin is made)

9

What gene is mutated in hemophilia A? What chromosome? What is it caused by?

F8; X chromosome; inversion

10

Females can be affected by _____ but not by _____.

X-linked dominant; X-linked recessive

11

How do X-linked recessive disorders occur?

from lyonization

12

What is the new mutation rate in Rett Syndrome?

95%

13

What is the repeat in Fragile X?

CGG

15

What is the incidence rate of Fragile X?

1:2500 males; 1:7000 females

17

X-linked recessive disorders show the phenotype in ______ males and _______ females.

all; homozygous

18

What is the incidence rate of Becker Muscular Dystrophy?

3:100,000

19

What is the incidence rate of Duchenne Muscular Dystrophy?

1:3600

20

What is the mutated gene in Fragile X? Which chromosome?

FMR1 on the X chromosome

21

What is the transmission bias for Fragile X?

maternal

22

What gene is mutated in Hypophosphatemic Rickets?

PHEX

22

What is the incidence rate of hemophilia A?

1:4000 males

24

What is the mutation in Rett Syndrome? Where is it located?

MECP2 gene on X chromosome

25

What is the result of a PHEX gene mutation??

kidneys cannot reabsorb phosphate into the blood; soft bones result

26

lyonization

silencing of one X chromosome

27

What is the difference between DMD-associated DCM and DMD?

no involvement in the skeletal muscle in DMD-associated DCM

29

Hypophosphatemic Rickets incidence rate?

1:20,000

30

What are the signs and symptoms of hemophilia A?

bleeding into joints, muscles, head, bruising, delayed healing

32

What is the protein of interest in Rett Syndrome? What does it do?

Methyl CpG binding protein; normal function of nerve cells

33

What are the symptoms of Duchenne Muscular Dystrophy?

progressive muscular degeneration; calf hypertrophy; early death; Gower maneuver

34

What is FMR1 essential for?

normal cognitive development and female reproductive function

35

X-linked dominant inheritance is expressed in male _____ and female _____.

hemizygotes; heterozygotes

36

What # of repeats is needed for full Fragile X mutation?

more than 200