How can you identify if a person is homozygous for a certain allele?

Question

I've been thinking about starting a small private research project. In this project I need to find out whether a person is homozygous for a certain allele. The reason for this is that I'm really trying to find out whether has a mutation that makes him/her *not* produce this chemokine. Thus I need to identify in an easy way which people are "normal", which people have the mutation in one chromosome, and which people have the mutation in both. About 1% of the population have the mutation in both chromosomes. A primer would AFAIK not be able to differ between the heterozygous and the "normal" people.Do anyone know how to approach this?

Answer 1

I am not sure what you mean by a primer not being able to identify a mutation. Primers are used to amplify the gene in the middle of the two primers. The amplification product (PCR) can then be sequenced using Sanger sequencing (ddNTP).

You can also use fluorescence labeled dNTPs on a microarray to determine which base pair is present at a location. For example, A would produce a green fluorescence once incorporated into the strand at wavelength X and T would fluoresce at wavelength Y. Therefore, you know which nucleotide is present by the color captured in the machine.

Both techniques are used world wide daily.