2 - Genes and Genetic Diseases

Question 1

Two components of DNA structure

Answer 1

1. Deoxyribose-phosphate backbone
2. Four types of nitrogen bases (adenine, thymine, guanine and cytosine)

Question 2

DNA Structure

Answer 2

Double Helix structure - two stands held together by hydrogen bonds

Question 3

Transcription

Answer 3

The process in which a gene’s DNA sequence is copied (transcribed) to make an RNA molecule

Question 4

Translation

Answer 4

The process through which information encoded in messenger RNA (mRNA) directs the addition of amino acids during protein synthesis

Question 5

Genes

Answer 5

Segments of DNA that encode
for specific proteins

Question 6

DNA

Answer 6

Composed of a number of
different genes

Question 7

Chromosomes

Answer 7

Structure that organizes
DNA into various sections

Question 8

Genetics

Answer 8

Study of genes - how they carry information, how that information is expressed, and how they are replicated

Question 9

Meiosis

Answer 9

After chromosomal intermixing, single cell divides twice to produce four genetically unique daughter cells each containing half the number of chromosomes 4n)

Question 10

Mitosis

Answer 10

A cell duplicates its chormosomes and segregates them, producing two identical nuclei and then splits into two identitical daughter cells, each 2n

Question 11

Mutation

Answer 11

Effect occurs during DNA replication, has evolutionary basis resulting in positive/negative benefits, and the resulting evolution or extinction

Question 12

Substitution (+ example)

Answer 12

Inappropriate sequence of nucleotides creating a single different amino acid than what was intended
E.g. (Sickle-cell anemia)

Question 13

Insertion

Answer 13

Insertion of new inappropriate nucleotide, messes up the order and creates multiple new amino acids

Question 14

Deletion (+ example)

Answer 14

Inappropriate nucleotide removed, messes up the chain order and multiple new amino acids made
E.g. Cystic Fibrosis

Question 15

Base pair substitutions

Answer 15

One base pair replaces another base pair, results in only one amino acid change

Question 16

Missense

Answer 16

Produce a change in a single amino acid, (still working code, just not the correct code)

Question 17

Nonsense

Answer 17

Produce one of three stop codons (UAA, UAG, UGA)

Question 18

Frameshift mutation

Answer 18

Insertion or deletion of one or more base pairs, greatly alter amino acid sequence, dramatic change in protiens produced

Question 19

Genotype

Answer 19

Refers to genetic material passed between generations

Question 20

Phenotype

Answer 20

Observable characteristics or traits of an organism

Question 21

Autosomal Dominant Inheritance

Answer 21

Gene is located on one of the numbered, or non-sex, chromosomes. A single copy of the mutation is enough to cause disease

Question 22

Autosomal Recessive Inheritance

Answer 22

Gene is located on one of the numbered, or non-sex, chromosomes. Two copies of mutation required to cause disease

Question 23

X-linked Inheritance

Answer 23

Gene carried by mother (X-linked)
Female Children, become carriers, Male Children become affected.

Question 24

Codon

Answer 24

Three sequential nitrogen bases that “code” for a specific amino acid

Question 25

Number of amino acids in the body

Answer 25

20