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Flashcards in Genetics Deck (36):
1

Who is this Archibald Edward Garrod character?

English physician who pioneers the field of inborn errors of metabolism

2

What is the major Australian genetic disease?

cystic fibrosis

3

What was the first genetic disease to be routinely tested for at birth?

Phenylketonuria (PKU)

4

One protein can only have one mutation?

Nope. many mutations possible

5

Types of single gene disorders?

Autosomal dominant
autosomal recessive
X-linked dominant
X-linked recessive
Y-linked
Mitochondrial

6

What is the PCR technique used for genetic testing?

Gene amplification

7

What's the self mutilation condition called?

Lesch-Nyhan syndrome

8

What's the collagen defect gene called?

Ehlers Danlos syndrome

9

What did Archibald Edward Garrod describe in 1902?

Alkaptouria (Dark urine after air exposure)

10

Common Trisomies?

21 = downs
18
13 = cyclops
XXY Klinefelter's

11

Red green colour blindness is X-linked_____

Recessive

12

Blue Yellow colour blindness is autosomal______

dominant

13

What do these all have in common?
Hemophilia A
Duchenne muscular dystrophy
Lesch Nyhan syndrome
male patter baldness

All X-linked recessive conditions

14

What's Mendel's first law?

Parents have two copies of the gene for a character

15

What is Mendel's second law?

Different characters are inherited independently

16

Do congenital abnormalities have to have a genetic basis?

Nope. could be a teratogen

17

What is Ehlers Danlos syndrome?

collagen defect gene

18

Lesch-Nyhan syndrome?

self mutilation one

19

PKU is a lack what?

lack of enzyme that breaks down PKU, builds up and damages brain.

20

What does a build up of PKU inhibit?

Tyrosinase which makes melanin, so you get blond hair from dark haired parents

21

What's the prevention of PKU?

Low phenylalanine diet?

22

What first disease was associated with the Guthrie heel prick test?

PKU prevention

23

CF incidence?

1 in 2500

24

CF affects lungs, what else?

pancreas/liver/reproductive

25

What is the product of the CF gene?

Cystic Fibrosis Transmembrane conductance Regulator

26

What does Cystic Fibrosis Transmembrane conductance Regulator do?

Chloride channel protein in certain mucous membranes that help to clear mucous in lungs and other areas

27

What does the Guthrie heel prick test detect in regards to possible CF babies?

IRT (immunoreactive trypsin) via pancreas

28

The diagnosis of cystic fibrosis confirmed?

Excessive NaCl in sweat

29

What kind of helix is collagen? Where are the glycines?

triple helix with glycines stacked in the centre

30

What does kinked collagen in bone present as?

osteogenesis imperfecta

31

Is Ehler Danlos syndrom Autosomal recessive?

Nope. Autosomal dominant

32

Why was Niccolo Paganini so special?

Violinist with Marfan's syndrome, long extremities, could span the whole finger board, defect in Fibrillin 1 gene

33

What's defective in Albinism?

Tyrosinase, which leads to no melanin

34

Two examples of polygenic inheritance?

Skin colour
obesity

35

What kind of mutation occurs in sickle cell anemia?

point mutation of valine instead of glutamic acid

36

If you fluoresce plasma from someone with porphyria will Color be red or blue?

red