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Flashcards in Genetics Deck (24):
1

what is the term used to describe a particular gene or set of genes carried by an individual?

genotype

2

What is phenotype?

displayed characteristics

3

which gene mutation is the alteration of a single base pair

point mutation

4

which mutation is a loss of one or several base pairs

deletion

5

this mutation is the addition of one or several base pairs

insertion

6

one or several base pairs are replaced by several different base pairs

substitution

7

this mutation is caused by a shift in the reading frame caused by insertion or deletion of a number of nucleotides NOT DIVISIBLE BY 3

FRAMESHIFT MUTATION

8

what is a nonsense mutation

formation of a stop codon = alterations in the splicing and early termination

9

which mutation is an altered codon that codes for a different amino acid

missense mutation

10

what are the 3 major types of genetic disease?

Single-Gene mutation (most common)
Chromosomal Mutation
Multifactoral mutation

11

what happens if a protein is altered by a mutation

it can retain its function at a reduced capacity, become totally disabled, or gain an entirely new yet DAMAGING function

12

what type of mutation is aneuploidy?

chromosomal - aka trisomy

13

what does it mean to have a structural form of chromosomal mutation?

breakage and incorrect joining of chromosome agents

14

what are the 5 types of laws of inheritance?

autosomal dominant
autosomal recessive
X-linked dominant
X-linked recessive
mitochondrial

15

what is 3 copies of a chromosome called?

trisomy

16

leukemia is a translocation between chromosomes ____

9 and 22

17

are single nucleotide polymorphisms rare?

no - they occur every 100-300 bases; account for different blood types

18

True or false: cytogenic testing involves examining a strand of DNA for abnormalities

FALSE: it examines the whole chromosome

19

why is molecular testing difficult?

some diseases have different mutations that occur in the same gene and result in the same disease

20

3 types of genetic testing used

cytogenic
biochemical
molecular

21

what is cytogenic testing used to detect?

abnormalities in chromosome structure

22

what is biochemical testing used to detect?

abnormalities in protein function

23

what is molecular testing used to detect?

abnormalities in DNA sequence

24

What do you call the screening in which chromosomes are vividly painted with fluorescent molecules to identify abnormalities?

FISH (fluorescent in situ hybridization) testing