BIOL 206 Lecture Notes - Lecture 16: Phenylalanine, Membrane Protein, Fmr1

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orchidtortoise750

15 Apr 2016

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List different types of mutations and their effects. Provide examples of genetic diseases caused by mutations. Type of molecular change (see lecture 15 for details) Occurs when dna is not copied correctly & segment is repeated. Huntington disease (cag repeats); fragile x mental retardation 1 (fmr-1) Caused by cag repeat expansion in huntingtin gene. 11-34 cag (glutamine amino acid) repeats are normal. >34 repeats causes protein to aggregate in brain cells & causes progressive cell death. Chromosome is grown under specific conditions and show unusual constriction. Genetic disease results in unusually thick and dry mucuc in respiratory system. Defect in the chloride transporter in a membrane protein. Leads to absence of phenylalanine @position 508 of cf transmembrane conductance regulator (cftr for short) Mutated protein is missing an amino acid resulting in ability to fold correctly. Imbalance of ci- ions (more on outside) causes cellular water to leave the cell and form moist extracellular mucuc.

Related Questions

1. An occurrence of a gene made larger by trinucleotide repeats is:

Allelic expansion

Nucleotide expansion

Translocation mutation

Transformation

2. a chemical that can damage and/or change DNA is called a/an:

Allele

Endonuclease

Vector

Mutagen

3. An occurrence when a section of a chromosome relocates itself to an entirely different (non-homologous) chromosome is called a/an:

Inversion mutation

Translocation mutation

Transformation mutation

Duplication mutation

4. The tandem repeat in the sequence GGGAAGGGAAGGGAAGGGAAGGGAAG is:

GGA

GGGAA

GGAAG

GGAAGGG

A disease characterized by abnormally shaped hemoglobin is called:

Cystic Fibrosis

Sickle Cell Anemia

Marfan Syndrome

Leukemia

5. A point mutation that causes a substitution of a stop codon with an amino acid and leads to the formation of a longer protein is a:

Nonsense mutation

Missense mutation

Sense mutation

Frameshift mutation

6. Addition or deletion of nucleotides in a DNA sequence is known as a:

Nonsense mutation

Missense mutation

Sense mutation

Frameshift mutation

7. The least severe type of chromosomal mutation is:

Point

Frameshift

Inversion

Translocation

8. Chemicals inserting themselves into DNA can cause a:

Missense mutation

Nonsense mutation

Sense mutation

Frameshift mutation

9. A genetic condition caused by allelic expansion is:

Familial hypercholesterolemia

Fragile X syndrome

Alkaptonuria

Galactosemia

10. Which of the following is most likely the original DNA strand if the mutated DNA strand is ATAGUUGATGUA ?

ATAGAAGATGAA

ATAGCCGATGCA

ATAGGGGATGGA

ATAGTTGATGTA

11. An unbalanced chromosomal mutation would include a/an:

duplication (insertion)

inversion

translocation

denaturation

12. Many translocation mutations are found to be involved with:

cancers

sickle cell anemia

Huntington disease

cystic fibrosis

13. A common repeat throughout the human genome that is approximately 300 bases in length is called a/an:

EcoRI repeat

Hind repeat

Exo repeat

Alu repeat

14. A balanced chromosomal mutation includes:

imprintation

denaturation

inversion

deletion

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BIOL 206 Lecture Notes - Lecture 16: Phenylalanine, Membrane Protein, Fmr1

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