heterozygous missense mutation - (Jan/08/2009 )

Hi,

I'm new to mutation. I need to check mutation in my gene of interets and don't know how to go bout. The coding sequence (cds) is only 1000bp. Do I just check the mutation in cds using mRNA r do I have to use genomic DNA. WHy use genomic DNA? Also, what is teh difference between heterozygous and homozygous mutation.

Thank you

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What kind of mutation are you expecting? SNPs? Since your gene seq is known, and you seem to know the original CDS, align your seqs and see where's the difference. But you should know roughly what to look for.

Heterozygous must means one allele has the mutation, the other's normal. Homozygous means both strands have the mutation.

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Hi,

Thank you very much for your response. I'mjust not sure what methods to choose to study mutaton in my gene of interest. No mutation in this gene has been reporpted inliterature and thus I'd to study this, but don;t know where to start. Shall I start by designing primers and sequencing the cds using the mRNA from cell lines? I've read journals that use genomic DNA for sequencing etc? HOw can I unsure that the mutation is eithr in a single allele or both?

Thanks!!!

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