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Cet abstract a été assigné à session BOG-SBO 1 Medische retina/ Rétine médicale
TitreHigh-throughput genotyping for molecular diagnosis of retinal dystrophies
Abstract Nr.A1024
ButThe recent substantial increase in the number of retinal dystrophy genes has forced geneticists to develop strategies to deal with screening of high numbers of DNA samples for many, often large, genes. Here, results of screening with one such strategy in patients with either Leber congenital amaurosis (LCA) or Stargardt disease (STGD) are presented.
MéthodesDNA of 52 LCA patients and 11 STGD patients was screened with the Arrayed Primer Extension (APEX) method. This analysis, performed by Asper Biotech®, Estonia, identifies all known mutations in all screened genes. Genes examined for LCA included CRB1, GUCY2D, RPE65, CRX, RPGRIP1 & AIPL1. In STGD patients, ABCA4 was screened. All patients underwent a comprehensive ophthalmological, psychophysical & electrophysiological examination.
RésultatsAt least 1 mutation was identified in 16 of 52 LCA patients (31%). The total number of LCA alleles identified was 23/104 (22%). In STGD patients, at least 1 mutation was identified in all 11 patients (100%). The total number of STGD alleles identified was 20/22 (91%).
ConclusionHigh-throughput techniques are invaluable tools for rapid mutation detection screening when several large genes need to be screened in large cohorts of patients. Furthermore, mutation detection with APEX allows for more carefully directed efforts of subsequent sequencing analysis, leading to a more economical use of resources.
Author 1
NomBERGHMANS
InitialesLV
InstitutGhent Univ Hospital
VilleGhent
Author 2
NomDE BAERE
InitialesE
InstitutGhent Univ Hospital
VilleGhent
Author 3
NomPAPAIOANNOU
InitialesM
InstitutInst of Ophthalmology
VilleLondon
Author 4
NomBHATTACHARYA
InitialesSS
InstitutInst of Ophthalmology
VilleLondon
Author 5
NomAYUSO
InitialesC
InstitutFund Jimenez Diaz
VilleMadrid
Author 6
NomDE LAEY
InitialesJJ
InstitutGhent Univ Hospital
VilleGhent
Author 7
NomALLIKMETS
InitialesRL
InstitutColumbia Univ
VilleNew York
Author 8
NomMEIRE
InitialesFM
InstitutGhent Univ Hospital
VilleGhent
Author 9
NomCREMERS
InitialesFPM
InstitutRadboud Univ Nijmegen
VilleNijmegen
Author 10
NomLEROY
InitialesBP
InstitutGhent Univ Hospital
VilleGhent
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