PMC4069127_01
COL3A1 results obtained by polymerase chain reaction direct sequencing method.. Notes: This mutation is a one-base pair deletion (c.2187delA) and because of the deletion, amino acid Glutamate at position 730 changed to Lysine causing frame shift and formation of premature termination codon at 61 amino acids from the mutation position (p.Glu730Lysfs*61); the normal stop codon appeared after 737 amino acids.
imcrj-7-099Fig1.jpg
PMC4069127_01_imcrj-7-099Fig1.jpg
f1-imcrj-7-099
Glutamate at position 730 changing to Lysine and causing a frame shift and premature termination codon at 61 amino acids from the mutation position (p. Glu730Lysfs*61) by using the GenBank genetic sequence database available at http://www.ncbi.nlm.nih.gov/nuccore/NM_000090.3 (GenBank ID: NM_000090.3) as the reference, as shown in Figure 1.
The family pedigree with the result of the allele confirmation test.. Notes: The proband had a one-base-pair deletion (c.2187delA) on exon 32. The mother had the same mutation but no signs or symptoms of vascular Ehlers-Danlos syndrome. Using the informative SNPs (rs1801184, intron 34+63 and rs2271683), we determined from which parent each allele was derived (for the proband and patient). This clearly proved the familial relationship of the members.. Abbreviations: P, proband; SNP, single nucleotide polymorphism.
imcrj-7-099Fig2.jpg
PMC4069127_01_imcrj-7-099Fig2.jpg
f2-imcrj-7-099
By combining the single nucleotide polymorphism genotyping results, we could prove which allele of each parent was derived to the proband and client (Figure 2).