Mutations

Question 1

CF

Answer 1

Non-framshift mutation: 3 base deletion of AA 508 (Phe) the CF allele on CF allele on CFTR gene on Chr 7q31.2

Question 2

Tay Sachs disease

Answer 2

Frameshift mutation: insertion of 4 bases (TATC) => decrease in function of alpha subunit of hexoaminidase gene on Chr 15 => an increase of GM2 gangliosides

Question 3

O blood in ABO blood typing

Answer 3

Frameshift mutation: deletion of 1 base (G in valine)

Question 4

Sickle cell anemia

Answer 4

Missense mutation: [Glutamic acid => valine] in B-globulin chain of Hb

Question 5

B thalessemia

Answer 5

Nonsense mutation that causes glutamine (CAG) => stop codon (UAG) => defieincy in B-globin chains

Question 6

PKU

Answer 6

mutation of PAH (phenylalanine hydroxylase) => decrease in PAH => hyerphenylalanemia, low tryrosine, low melanin

Question 7

Marfans Syndrome

Answer 7

Fibrillin-1 on FBN1 gene on Chr 15q21.1 or FBN on Chr 5q23.31

Question 8

Classic EDS (Type I and II)

Answer 8

COL5A1, COL5A2

Question 9

Vascular EDS (Type 4)

Answer 9

COL3A1

Question 10

Kyphoscooliosis (Type 6)

Answer 10

Lysl hydroxylase

Question 11

Familial Hypercholesterolemia

Answer 11

LDL receptor

Question 12

NPD Type A

Answer 12

Missense mutation with NO sphingomyelinase on Chr 11p15.4 of MOMS chromosomes d/t epigenetic silencing of dads gene => increase in sphingolipids in spleen, liver, LN, BM, GI tract, lungs

Question 13

NPD Type B

Answer 13

Sphingomyelinase on Chr 11p15.4 of moms chromosomes d/t epigenetic silencing of dads gene => increase in sphingolipids

Question 14

NPD Type C

Answer 14

NPC1 (which moves Cholesterol from lysosome -> cytoplasm) on Chr 11p15.4 of moms chromosomes d/t epigenetic silencing of dads gene => increase in sphingolipids

Question 15

Gaucher disease Type 1

Answer 15

Glucocerebroside (VIRTUALLY NONE) increase in glucocerebroside in liver, spleen and BM

Question 16

Gaucher disease Type 2

Answer 16

Glucocerebroside => increase in glucocerebroside in liver, spleen and BM

Question 17

Gaucher disease Type 3

Answer 17

Glucocerebroside => increase in glucocerebroside in liver, spleen and BM

Question 18

MPS: Hurlers

Answer 18

Mutations in enzymes that affect GAG=>α-L-iduronidase deficiency - increase in dermatan sulfate and heparin sulfate mostly.

Question 19

MPS: Hnters

Answer 19

Mutations in enzymes that affect GAG=> l-lduronosulfate sulfatase deficiency-> increase in dermatan sulfate and heparin sulfate mostly.

Question 20

Von Gierke (Type I): hepatorenal

Answer 20

G6Pase => buildup of glycogen in the liver and kidney and decreased blood glucose

Question 21

McArdles (Type 5): myopathic

Answer 21

muscle phosphorylase => in skeletal ms

Question 22

Pompe (Type 2): misc

Answer 22

acid maltase (alpha-glucosidase) => all organs; liver, skeletal ms and <3

Question 23

Huntingtons Dz

Answer 23

Tri-nucleutide repeat of CAG exons of HTT gene on Chr 4p16.3, affecting Huntington protein => misfolded polyglutamine, causing a toxic gain of function

Question 24

Chr 22q11.2 Deletion syndrome

Answer 24

band q11.2 on the long arm of chromosome 22.

Question 25

DiGeorge Syndrome

Answer 25

band q11.2 on the long arm of chromosome 22.

Question 26

Velocardialfacial Syndrome

Answer 26

band q11.2 on the long arm of chromosome 22.