Identifying Genes

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Understanding:

•  In a eukaryote species there are different chromosomes that carry different genes

    
Eukaryotic chromosomes are linear molecules of DNA that are compacted during cell division (mitosis or meiosis)

Each chromosome has a constriction point called a
centromere, which divides the chromosome into two sections (or ‘arms’)

  • The shorter section is designated the p arm and the longer section is designated the q arm


Eukaryotic species possess multiple chromosomes that may differ in both their size and the position of their centromere

  • Staining chromosomes with particular dyes (e.g. Giemsa stain) will additionally generate unique banding patterns


Each chromosome will carry specific genes and the position of a particular gene on a chromosome is called the locus

The region in which a locus is positioned can be identified via three points of reference:

  • The first point of reference is a number (or letter) which denotes the chromosome (e.g. 7q31 refers to chromosome 7) 
  • The second point of reference is a letter (p or q) to denote which arm the locus is positioned on (e.g. 7q31 is on the q arm)
  • The third point of reference is a number corresponding to the G band location (e.g. 7q31 is at the longitudinal position 31)


Gene Locations as Shown by a Chromosome Map

chromosome map


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Skill:

•  Use of databases to identify the locus of a human gene and its polypeptide product

    
The locus of a human gene and its polypeptide product can both be identified using a single online resource:

  • GenBank – a genetic database that serves as an annotated collection of DNA sequences

genbank


Identifying Gene Loci

GenBank can be used to identify the specific location of a gene on any given chromosome

To identify a specific gene locus:

  • Change the search parameter from nucleotide to gene and type in the name of the gene of interest
  • Choose the species of interest (i.e. Homo sapiens) and click on the link (under ‘Name / Gene ID’)
  • Scroll to the ‘Genomic context’ section to determine the specific position of the gene locus
  • A visual profile can be generated by clicking on ‘Map Viewer’ link and looking at the Ideogram on the left side


Identifying Polypeptide Products:

GenBank can also be used to identify the polypeptide product of any given gene

To identify the polypeptide product of a gene:

  • Change the search parameter from nucleotide to gene and type in the name of the gene of interest
  • Choose the species of interest (i.e. Homo sapiens) and click on the link (under ‘Name / Gene ID’)
  • The polypeptide product should be identified within the ‘Summary’ section


Below are examples of different genes that may be searched for:

  • HBB  –  Haemoglobin beta gene
  • DRD4  –  Dopamine receptor D4 gene
  • F8  –  Coagulation factor VIII gene
  • IGF1R  –  Insulin growth factor 1 receptor gene


Link:  Human Genome Online Chromosome Viewer