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:
- 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.
- Are there pedigree drawing programs available free (on-line) which
can be used to draw pedigrees for submission to journals?
Thanks.
Alan Khoo Khoo <alankhoo@IMR.GOV.MY>