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

ABSTRACT:

Background

Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia. Early screening and diagnosis are important. The mutation spectrum of the MMACHC gene causing cblC varies among populations. The mutation spectrum in Chinese population is notably different from that in other populations.

Methods

A PCR followed by high-resolution melting curve analysis (PCR-HRM) method covering all coding exons of MMACHC gene was designed to verify 14 pathogenic MMACHC gene variants found in patients with cblC, including all common mutations in Chinese patients with cblC.

Result

By PCR-HRM analysis, 14 pathogenic variants

SUBMITTER: Wang C 

PROVIDER: S-EPMC7284048 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature