Genetics

Question 1

FGFR3

Answer 1

gene sequence that causes achondroplasia

Question 2

DNA damage and repair

Answer 2

DNA strands breaks - BRCA1/2 BAD51
chemical crosslinking - Xeroderma pigmentosa
mismatched base - hereditary colorectal cancer
some diseases caused by fault in okasaki fragments

Question 3

central dogma

Answer 3

how a gene encodes a protein 
DNA
transcription and splicing
mRNA
translation and post translational modification 
protein

Question 4

aneuploidy

Answer 4

whole extra or missing chromosome

Question 5

translocation

Answer 5

rearrangement of chromosomes

Question 6

insertions and deletions

Answer 6

missing and duplicated material

Question 7

microdeletions

Answer 7

can’t be seen down a microscope

Question 8

robertsonian translocation

Answer 8

two acrocentric chromosomes stuck end to end

Question 9

trisomy 18

Answer 9

edwards syndrome

Question 10

45X

Answer 10

turner syndrome

Question 11

47XXX

Answer 11

triple X

Question 12

47XXY

Answer 12

Klienfelter syndrome

Question 13

mosaicism

Answer 13

different cells have a different genetic constitution

Question 14

philadelphia chromosome

Answer 14

translocation from 9 to 22
activation of oncogene
present in many leukemias

Question 15

promoter mutation

Answer 15

no/reduced transcription/protein

Question 16

splice consensus altered

Answer 16

mutation at splice site
mRNA decay
abnormal or absent protein

Question 17

bases change makes new stop

Answer 17

mRNA decay

short or absent protein

Question 18

types of mutations

Answer 18

wild type 
stop 
missense 
insertion 
deletion out of/ in frame 
triplet expansion

Question 19

p.

Answer 19

change in the peptide sequence

Question 20

c.

Answer 20

change in the mature mRNA sequence

Question 21

filtering

Answer 21

exclude if its a known polymorphism
keep if affects gene function
if it is a gene that explains the phenotype

Question 22

penetrance

Answer 22

the likelihood of having a disease if you have a gene mutation

Question 23

caveat

Answer 23

a female carrier may show mild features of an x linked disease

Question 24

SNP

Answer 24

single nucleotide polymorphism

Question 25

CNV

Answer 25

copy number variations

extra or missing stretches of DNA