Abstract bekijken

Deze abstract is toegekend aan sessie BOG-SBO 1 Medische retina/ Rétine médicale
TitelHigh-throughput genotyping for molecular diagnosis of retinal dystrophies
Abstract Nr.A1024
DoelThe 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.
MethodesDNA 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.
ResultatenAt 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%).
ConclusieHigh-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.
Auteur 1
NaamBERGHMANS
InitialenLV
InstituutGhent Univ Hospital
StadGhent
Auteur 2
NaamDE BAERE
InitialenE
InstituutGhent Univ Hospital
StadGhent
Auteur 3
NaamPAPAIOANNOU
InitialenM
InstituutInst of Ophthalmology
StadLondon
Auteur 4
NaamBHATTACHARYA
InitialenSS
InstituutInst of Ophthalmology
StadLondon
Auteur 5
NaamAYUSO
InitialenC
InstituutFund Jimenez Diaz
StadMadrid
Auteur 6
NaamDE LAEY
InitialenJJ
InstituutGhent Univ Hospital
StadGhent
Auteur 7
NaamALLIKMETS
InitialenRL
InstituutColumbia Univ
StadNew York
Auteur 8
NaamMEIRE
InitialenFM
InstituutGhent Univ Hospital
StadGhent
Auteur 9
NaamCREMERS
InitialenFPM
InstituutRadboud Univ Nijmegen
StadNijmegen
Auteur 10
NaamLEROY
InitialenBP
InstituutGhent Univ Hospital
StadGhent
top ^