Clinical validation of a single-tube PCR and reverse dot blot assay for detection of common α-thalassaemia and β-thalassaemia in Chinese.

Hong-Feng LiangLie-Jun LiHui YangXiang-Bin ZhengMin LuYi-Yuan GeFen LinLong-Xu XieLi-Ye Yang

Published in: The Journal of international medical research (2022)

The novel M-PCR/RDB II assay was simple, rapid and accurate, suggesting that it could be used for the genetic screening and clinical diagnosis of common α-thalassaemia and β-thalassaemia variants in Chinese populations.

Keyphrases

real time pcr
high throughput
loop mediated isothermal amplification
copy number
genome wide
high resolution
dna methylation
sensitive detection
label free
genetic diversity