Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma.

Ola M EidHosam El ZomorAmal M MohamedHala T El-BassyouniHanan H AfifiMoatasem El-AyadiSherin H SadekSaida A HammadSherine I SalemRana MahrousIslam M FadelKhaled RefaatMahmoud A AfifiAbdallah E ShelilOthman A O ZikoAmira A Abdel AzeemAlaa El-Haddad

Published in: Ophthalmic genetics (2022)

Our results suggested MLPA is a fast, reliable, and powerful method and should be used as a first-line screening tool for detecting RB1 CNVs in patients with RB. Moreover, MLPA is advantageous as it evaluates the methylation status/inactivation of RB1, not possible by FISH.

Keyphrases

copy number
mitochondrial dna
genome wide
quantum dots
dna methylation
living cells
high throughput
fluorescent probe