2. INTRODUCTION
The article provides evidence for the
pathogenic effect of an intronic
deletion of the NARS2 gene and
reports on adult patients with large
intrafamilial variability associated
with splice variants of this gene.
Chromosomal location : 11q14.1 Photo taken from:
https://innovativegenomics.org/es/glosario/gen/
5. (WES) Whole exome sequencing:
This method allows variations in the protein-coding
region of any gene to be identified, rather than in only a
select few genes.
PCR:
Laboratory technique for rapidly producing (amplifiying)
millions to billions of copies of a specific segment of
DNA, which can then be studied in a greater detail.
METHODS
Photo taken from:
https://genotipia.com/genetica_medica_news/pcr-crispr/
6. Sanger sequencing for variant identification
or validation:
Used to test for known familial variants, for validation of
results obtained through NGS and for some single gene
sequencing.
BN PAGE or Blue Native Polyacrylamide gel
electrophoresis:
Is a common technique to resolve protein complexes by
molecular weight while retaining their native structure
through gel electrophoresis.
METHODS
Photo taken from:
www.medlineplus.gov
7. PARTIAL VARIATION BETWEEN FIBROBLASTS AND
MUSCLE.
(PROTEIN)
RESULTS…
● At position 822 of the sequence of the genetic
material a guanine was replaced by a cytosine.
● At position 922 there is a deletion of CTT.
