Unit 1 Chapter 4/5 Flashcards

1
Q

the name given to mutations that involve an alteration of a DNA nucleotide sequence

A

Single Gene Mutation

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2
Q

condition caused by a frameshift mutation

A

Tay-Sachs Syndrome and Cystic Fibrosis

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3
Q

what happens if no protein is produced or a faulty protein is expressed

A

Mutation

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4
Q

the protein whose components are protein and carbohydrate

A

Glycoproteins

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5
Q

the type of substitution mutation where the altered codon codes for an amino acid that still makes sense but not the original sense.

A

Missense

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6
Q

the three types of chromosome mutations

A

Deletion, Duplication and Translocation

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7
Q

the units from which proteins are built and of which there are about 20 different types

A

Amino Acids

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8
Q

the three types of point mutation

A

Substitution, Insertion, Deletion

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9
Q

the type of bonds that hold amino acids together

A

Peptide

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10
Q

the name given to sites on the introns where splicing takes place and where mutations can occur resulting in introns being retained

A

Splice sites

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11
Q

the type of mutation where a repeat of a nucleotide sequence occurs

A

Nucleotide Sequence Repeat Expansion

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12
Q

the name given to agents like X-rays and gamma rays that can increase mutation rate

A

Mutagenic Agents

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13
Q

the type of substitution mutation where a stop codon replaces another codon forming a shorter than normal polypeptide that is unable to function

A

Nonsense

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14
Q

the name given to mutations that involve a change in one DNA nucleotide

A

Point Mutation

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15
Q

the name given to an individual who is affected by a mutation

A

Mutant

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16
Q

the process of post-transcriptional processing of mRNA where introns are removed and exons joined together

A

Splicing

17
Q

the term used to describe the study of the human genome where the sequence of bases along the DNA is determined

A

Human Genomics

18
Q

the term used to describe altered genetic sequences that have no negative effect

A

Neutral

19
Q

the study of the effects(therapeutic, neutral or adverse) of pharmaceutical drugs on the genetically diverse members of the human population

A

Pharmacogenetics

20
Q

the possible advantages of personal genomic sequencing being used widely in the future

A

to assess predisposition to a disease, predict risk and reduce risk through drug treatment and lifestyle changes

21
Q

the theory that proposes that humans originated in Africa and underwent early evolutionary divergence in that continent over a very long period of time

A

‘Out-of-Africa’ Theory

22
Q

the types of gene sequences that can be searched for using bioinformatics

A

Protein-Coding Sequences, Start Sequences and Stop Codons

23
Q

the factors that most medical disorders depend on for their expression

A

Genetic and Environmental Factors

24
Q

the name given to the fusion of molecular biology, statistical analysis and computer technology

A

Bioinformatics

25
Q

the name given to the complete sequencing of a person’s DNA bases

A

Personal Genome Sequence

26
Q

the technique used to create many copies of a piece of DNA in vitro

A

Polymerase Chain Reaction (PCR)

27
Q

the study of a group of living things with respect to their diversity, relatedness and classification

A

Systematics

28
Q

the enzymes obtained from a bacterium native to hot springs that adds nucleotides to the primers at the 3’ end of the original DNA strands.

A

Heat-Tolerant TAQ DNA Polymerase

29
Q

a short, single-stranded fragment of DNA used to detect the presence of a specific sequence of nucleotide bases in a sample of DNA

A

DNA Probe

30
Q

the variation in DNA sequence that affects a single base pair in a DNA chain

A

Single Nucleotide Polymorphism(SNP)