Genetic Disease and Testing (3) Flashcards
(15 cards)
Roughly what percentage of the gene is exons?
2/3%
A genetic variation that is prevalent in the population and not, in itself, disease causing
Polymorphism
A genetic variation that causes disease
Mutation
Focused testing used in genetics:
______ (PCR)
______ (NGS)
polymerise chain reaction
next generation sequencing
____ 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.
PCR (polymerise chain reaction)
In NGS if there is a variation, on the trace you see ______
an overlap (as it will show two different bases on the same loaction)
If there is a mutation on the promoter gene then there will be ________ and therefore _______
no or reduced transcription
no or reduced protein
If there is a mutation on one of the splice sites then there will be ________ and therefore _______
a missing part of code
an abnormal/absent protein
Types of mutation in DNA sequence:
- The cat sat on the mat
- The cat
- The car sat on the mat
- The cat spa to nth ema t
- The cas ato nt hem at
- The cat on the mat
- The cat cat sat on the mat
- Wild type
- Stop
- Missense
- Insertion
- Deletion (out of frame)
- Deletion (in frame)
- Triplet expansion
_______ mutations are very serious as they alter the whole chain after mutation and therefore what the triplets code for.
Frameshift (insertion/deletion of 1/2 bases)
For ______ _______ conditions, only one copy of the affected gene must be present to display in the phenotype.
Autosomal Dominant
For ______ _______ conditions, both copies of the affected gene must be present to display in the phenotype.
Autosomal Recessive
________ 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.
X-linked
_______ is a process by which one of the copies of the X chromosome present in female mammals is inactivated.
X-inactivation
______ ______ 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.
Dosage Compensation
X-inactivation
