HUM-MOLGEN DIAGnostics/Clinical Research

7 November 1997
How to name this mutation?

Dear colleagues,

I am a medical doctor and a researcher at the Division of Molecular Pathology, Institute for Medical Research, Kuala Lumpur and the Department of Paediatrics, Kuala Lumpur Hospital, Malaysia. I would be grateful if you could advice me on the following:

How to name this mutation:

  1. Wild type AG ; Mutant C
    The 3rd nucleotide (nucleotide no, say 105) of codon 35 is A and the first nucleotide of codon 36 is G (i.e. nucleotide 106 is G). There has been a frameshift mutation as well as a base substitution.
  2. Are there pedigree drawing programs available free (on-line) which can be used to draw pedigrees for submission to journals?


Alan Khoo Khoo <alankhoo@IMR.GOV.MY>