Limits...
MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.

Wyatt AW, Ragge N - Mol. Vis. (2009)

Bottom Line: Targeted techniques for the routine testing of gross rearrangements have become essential tools for diagnostic researchers with the search for the most cost-effective and efficient tool assuming high priority.We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease.We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost.

View Article: PubMed Central - PubMed

Affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

ABSTRACT
Whole gene deletions or duplications are an important cause of genetic disease and phenotypic variation. Targeted techniques for the routine testing of gross rearrangements have become essential tools for diagnostic researchers with the search for the most cost-effective and efficient tool assuming high priority. We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease. We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost.

Show MeSH

Related in: MedlinePlus

The use of MLGA to detect OTX2 and SOX2 deletions in cases 1-5. Left: GeneMapper® traces demonstrate the reduced signal from an OTX2 deletion (upper) and a SOX2 locus deletion (lower). Right: Bar graphs of normalized peak area ratios show reduced copy numbers of OTX2 (upper) and SOX2 locus (lower) in individuals with deletions when compared to normal controls. A normalized ratio of 0.5 indicates a deletion of one copy of the targeted loci while a ratio of 1 indicates a normal copy number.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC2716932&req=5

f1: The use of MLGA to detect OTX2 and SOX2 deletions in cases 1-5. Left: GeneMapper® traces demonstrate the reduced signal from an OTX2 deletion (upper) and a SOX2 locus deletion (lower). Right: Bar graphs of normalized peak area ratios show reduced copy numbers of OTX2 (upper) and SOX2 locus (lower) in individuals with deletions when compared to normal controls. A normalized ratio of 0.5 indicates a deletion of one copy of the targeted loci while a ratio of 1 indicates a normal copy number.

Mentions: The ABI GeneMapper® traces demonstrated a proportional reduction in the peak area of the OTX2 fragment in all three individuals (cases 1–3) with previously identified OTX2 deletions and a proportional reduction in the peak area of the SOX2 locus fragment in individuals (cases 4 and 5) with previously identified deletions of the entire SOX2 locus (Figure 1 for traces and graphs of OTX2 and SOX2 locus deletions). Each result was confirmed in a second assay.


MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.

Wyatt AW, Ragge N - Mol. Vis. (2009)

The use of MLGA to detect OTX2 and SOX2 deletions in cases 1-5. Left: GeneMapper® traces demonstrate the reduced signal from an OTX2 deletion (upper) and a SOX2 locus deletion (lower). Right: Bar graphs of normalized peak area ratios show reduced copy numbers of OTX2 (upper) and SOX2 locus (lower) in individuals with deletions when compared to normal controls. A normalized ratio of 0.5 indicates a deletion of one copy of the targeted loci while a ratio of 1 indicates a normal copy number.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2716932&req=5

f1: The use of MLGA to detect OTX2 and SOX2 deletions in cases 1-5. Left: GeneMapper® traces demonstrate the reduced signal from an OTX2 deletion (upper) and a SOX2 locus deletion (lower). Right: Bar graphs of normalized peak area ratios show reduced copy numbers of OTX2 (upper) and SOX2 locus (lower) in individuals with deletions when compared to normal controls. A normalized ratio of 0.5 indicates a deletion of one copy of the targeted loci while a ratio of 1 indicates a normal copy number.
Mentions: The ABI GeneMapper® traces demonstrated a proportional reduction in the peak area of the OTX2 fragment in all three individuals (cases 1–3) with previously identified OTX2 deletions and a proportional reduction in the peak area of the SOX2 locus fragment in individuals (cases 4 and 5) with previously identified deletions of the entire SOX2 locus (Figure 1 for traces and graphs of OTX2 and SOX2 locus deletions). Each result was confirmed in a second assay.

Bottom Line: Targeted techniques for the routine testing of gross rearrangements have become essential tools for diagnostic researchers with the search for the most cost-effective and efficient tool assuming high priority.We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease.We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost.

View Article: PubMed Central - PubMed

Affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

ABSTRACT
Whole gene deletions or duplications are an important cause of genetic disease and phenotypic variation. Targeted techniques for the routine testing of gross rearrangements have become essential tools for diagnostic researchers with the search for the most cost-effective and efficient tool assuming high priority. We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease. We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost.

Show MeSH
Related in: MedlinePlus