Genetic Disease and Testing (3)

Question 1

Roughly what percentage of the gene is exons?

Answer 1

2/3%

Question 2

A genetic variation that is prevalent in the population and not, in itself, disease causing

Answer 2

Polymorphism

Question 3

A genetic variation that causes disease

Answer 3

Mutation

Question 4

Focused testing used in genetics:
______ (PCR)
______ (NGS)

Answer 4

polymerise chain reaction

next generation sequencing

Question 5

____ is a technique used in molecular biology to amplify a single copy of a segment of DNA, generating thousands to millions of copies of a particular DNA sequence.

Answer 5

PCR (polymerise chain reaction)

Question 6

In NGS if there is a variation, on the trace you see ______

Answer 6

an overlap (as it will show two different bases on the same loaction)

Question 7

If there is a mutation on the promoter gene then there will be ________ and therefore _______

Answer 7

no or reduced transcription

no or reduced protein

Question 8

If there is a mutation on one of the splice sites then there will be ________ and therefore _______

Answer 8

a missing part of code

an abnormal/absent protein

Question 9

Types of mutation in DNA sequence:

1. The cat sat on the mat
2. The cat
3. The car sat on the mat
4. The cat spa to nth ema t
5. The cas ato nt hem at
6. The cat on the mat
7. The cat cat sat on the mat

Answer 9

1. Wild type
2. Stop
3. Missense
4. Insertion
5. Deletion (out of frame)
6. Deletion (in frame)
7. Triplet expansion

Question 10

_______ mutations are very serious as they alter the whole chain after mutation and therefore what the triplets code for.

Answer 10

Frameshift (insertion/deletion of 1/2 bases)

Question 11

For ______ _______ conditions, only one copy of the affected gene must be present to display in the phenotype.

Answer 11

Autosomal Dominant

Question 12

For ______ _______ conditions, both copies of the affected gene must be present to display in the phenotype.

Answer 12

Autosomal Recessive

Question 13

________ recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation.

Answer 13

X-linked

Question 14

_______ is a process by which one of the copies of the X chromosome present in female mammals is inactivated.

Answer 14

X-inactivation

Question 15

______ ______ is the process by which organisms equalise the expression of genes between different biological sexes. To equalise gene expression amongst males and females that follow a XX/XY sex differentiation would be to eliminate the expression of one of the X chromosomes in females (_-______), so both genders then express only one X chromosome.

Answer 15

Dosage Compensation

X-inactivation