Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

Chao WangYang LiuFengying CaiXinjie ZhangXiaowei XuYani LiQianqian ZouJie ZhengYuqin ZhangWei GuoChunquan CaiJianbo Shu

Published in: Molecular genetics & genomic medicine (2020)

The established PCR-HRM method for screening common pathogenic MMACHC variants in Chinese patients with cblC has the advantages of high accuracy, high throughput, low cost, and high speed. It is suitable for the large-sample screening of suspected children with methylmalonic acidemia and carriers in population.

Keyphrases

high resolution
high speed
low cost
high throughput
atomic force microscopy
young adults
mass spectrometry
gene expression
copy number
dna methylation
single cell
genome wide
data analysis
tandem mass spectrometry