#17 MTEC ASSIGNMENT

1. Silent Mutations - A change in the genetic sequence that does not change the protein sequence. This can occur because of redundancy in the genetic code where an amino acid may be encoded for by multiple codons Example: the codon AAA is altered to become AAG, the same amino acid--lysinewill be incorporated into the peptide chain

2. Missense mutations - A change in DNA sequence that changes the codon to a different amino acid. Not all missense mutations are deleterious, some changes can have no effect. Because of the ambiguity of missense mutations, it is often difficult to interpret the consequences of these mutations in causing disease. Example: DNA: 5' - ATG ACT CAC CAC GCG CGA AGC TGA - 3' becomes DNA: 5' - ATG ACT CAC CCC GCG CGA AGC TGA - 3'

3. Nonsense mutations - A change in the genetic code that results in the coding for a stop codon rather than an amino acid. The shortened protein is generally non-function or its function is impeded. Frameshift mutations - The insertion or deletion of a number of bases that is not a multiple of 3. This alters the reading frame of the gene and frequently results in a premature stop codon and protein truncation. Example: the nucleotide cytosine is replaced by thymine in the DNA code, signaling the cell to shorten the protein.

4. Translocation mutations - A structural abnormality of chromosomes where genetic material is exchanged between two or more non-homologous chromosomes. Example: Down's syndrome (trisomy of chromosome 21), Edwards' syndrome

Ma. Lourdes J. Genolos

BMLS 3A

March 6. 2014

#17 5. RNA splicing mutations - A change in the genetic sequence that occurs at the boundary of the exons and introns. The consensus sequences at these boundaries signal where to cut out introns and rejoin exons in the mRNA. A change in these sequences can eliminate splicing at that site which would change the reading frame and protein sequence. Example: GT to AT 5 splice site mutation in hSNF5 causes deletion of exon 7, a frame shift, and a truncated reading frame, and this causes infant brain tumors when a second hit is provided at the wild-type allele by a deletion

6. Transposable element mutations - are segments of DNA that can move around to different positions in the genome of a single cell. Example: several mutations in the Duchenne muscular dystrophy gene (Mutations, ND)

7. Trinucleotide repeat mutations - caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes exceed the normal, stable threshold, which differs per gene. The mutation is a subset of unstable microsatellite repeats that occur throughout all genomic sequences. If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene. Example: Fragile X syndrome (Mutations, ND)

References: Mutations. (N.D.) The Different Types of Mutations. Retrieved March 6, 2014 from http://www.uvm.edu/~cgep/Education/Mutations.html on 3.6.14

Ma. Lourdes J. Genolos

BMLS 3A

March 6. 2014