Genetics Review
PubMed Entrez BLAST OMIM Taxonomy Structure
NCBI Home
NCBI Site Map
     brief/complete

Course Description

Schedule

Introduction

Genetics Review

Types of Databases

Format of Sequence Record

Entrez

BLAST

3-D Structures

Genomes and Maps

Librarian Roles

WWW Sites

Glossaries and Dictionaries

 

Mutations back to top

Source:  image from the National Human Genome Research Institute (NHGRI) Genetic Illustrations.

Definitions back to top

Deletion: loss of a piece of DNA from a chromosome. Deletion of a gene or part of a gene can lead to a disease or abnormality.

Duplication: production of one or more copies of any piece of DNA, including a gene or even an entire chromosome.

Insertion: a type of chromosomal abnormality in which a DNA sequence is inserted into a gene, disrupting the normal structure and function of that gene.

Translocation: breakage and removal of a large segment of DNA from one chromosome, followed by the segment's attachment to a different chromosome.

Source:  definitions from the National Human Genome Research Institute (NHGRI) Glossary of Genetic Terms.

More... back to top

If the DNA which codes for a protein contains an error, or mutation, it might result in a three dimensional protein structure that has an incorrect shape (e.g., normal hemoglobin vs. sickle cell hemoglobin).

There are various types of mutations, including insertions, deletions, and translocations. As an example, take the sentence (which is made of three letter words, similar to triplet codons):

      The fat cat saw the red dog 
If we insert the letter 'x' before the f, the sentence will no loner have the same meaning. In fact, it will be unreadable:

      The xfa tca tsa wth ere ddo g 
A similar effect will happen if we delete the f:

      The atc ats awt her edd og 
or if we translocate the 'e' in 'The' with the 'f' in 'fat':

      Thf eat cat saw the red dog 
Another example of deletion...

The cystic fibrosis transmembrane conductance regulator (CFTR) gene contains 250,000 base pairs. In the majority of cystic fibrosis patients, three base pairs are missing. This leads to the loss of a single amino acid from the 1,480 residues in the protein...and this change ultimately kills a person. more...

Help Desk NCBI NLM NIH Credits
  Revised September 29, 2000
Comments/questions about course to Renata Geer renata@ncbi.nlm.nih.gov
Questions about NCBI resources to info@ncbi.nlm.nih.gov