Can you give the example with FIG?
I want to know about the Biallelic Mutations or the Double allele mutation in the sequencing.
What are these? How these can be seen in sequencing, on seq chromatogram? How are these analyzed and reported?
e,g: Like Biallelic muation in PALB2 or SOCS-1 gene ( Pls check Fig Below)
I have to report it in CEBPa gene
Can you suggest and explain with Fig, Chromatogram and how to analyze?
Hi Mohsin,
See attached picture panel (a) as an example of Biallelic mutation:
You can see left panel of (a), one 'arrow' point to only one 'peak' (wild type), but in right panel of (a), one 'arrow' point to 2 peaks (wild type + mutant type) now. This is for one allele. You can see another arrow does the same, this mutation occurs on the other allele. See the original legend for the picture panel (a) below. By sequencing different clones and from their results, the authors ruled that they are 'bi-allelic mutation'. Bi-allelic = 2 alleles, on the two homologous chromosomes.
This is the legend of picture panel (a):
"(a) Biallelic mutation of PTEN in CRC 19. Two mutations (K62R and Y65C) were detected in exon 3 of CRC 19. The mutant sequence was cloned and each mutation was found to be located in a different clone suggesting that each mutation occurred on a different PTEN allele." [ http://www.nature.com/onc/journal/v23/n2/fig_tab/1207059f3.html ]
Hi,
Currently, Sequencing cloned DNA is only available approach. We are considering to develop a new approach to separate alleles before sequencing without cloning.
Of or pertaining to both alleles of a single gene (paternal and maternal). For example, biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation).
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