An affected child with SMA is homozygous mutant of SMN1 exones 7 and 8 deleted.
Father is hetrozygous and carrier for deletion of exones 7 and 8 of SMN1 gene and mother has a normal copy number of exones 7 and 8 of SMN1 gene. We think that mother has two copy of SMN1 gene on the same chromosome.
If the 2 copies are far enough from each other you may be able to see 2 spots when doing DNA FISH on mitotic chromosomes.
Thank you for your answer, Two copies may be very close to each other and I do not think that the FISH will be helpful
Can you get enough DNA for nanopore or other long-read sequencing? How did you genotype everyone initially?
Thanks for your suggestion. I have enough amount of DNA but in case of using nanopore sequencer the cost is a problem.
- Badges
- Science method