DNA Analysis

Question 1

penetrance

Answer 1

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

Question 2

mendelian disorders

Answer 2

diseases that segregate in families in the manner predicted by Mendel’s laws

Question 3

describe NGS

Answer 3

Can sequence an entire person’s genes

Breaks the DNA up into fragments and aligns these against a reference sequence

Question 4

steps in the process of NGS

Answer 4

1. gDNA
2. parallel sequencing
3. alignment
4. sequence that shows normal alleles and mutant allele

Question 5

if you see a genetic change, what may it be?

Answer 5

A disease causing mutation
A polymorphism
A variant of unknown significance

Question 6

describe a variant

Answer 6

any change in a DNA sequence

could be pathogenic or benign

Question 7

describe a mutation

Answer 7

a pathogenic variant

Question 8

describe a polymorphism

Answer 8

variants that are prevalent in the population

usually benign

Question 9

steps to find the causative variant

Answer 9

Is it in the coding bit of a gene?
Does it affect the gene?
Exclude variants we know are just polymorphisms
Is it in the gene that causes the disease?
Does the pattern of inheritance match?

Question 10

variant classifications

Answer 10

1-5

Question 11

class 1

Answer 11

definitely benign

Question 12

class 2

Answer 12

probably benign

Question 13

class 3

Answer 13

variant of uncertain significance

Question 14

class 4

Answer 14

probably pathogenic

Question 15

class 5

Answer 15

definitely pathogenic

Question 16

best tests for CV risk

Answer 16

BP and cholesterol