High resolution melting for F9 gene mutation analysis in patients with haemophilia B.

ABSTRACT:

Background

Since 2001, we have used conformation sensitive gel electrophoresis (CSGE) as our first choice for F9 gene mutation screening, leading to the identification of about 300 mutations causing haemophilia B (HB). To circumvent the disadvantages of CSGE, we recently evaluated high-resolution melting analysis (HRM), which represents the next-generation mutation scanning technology.

Materials and methods

In order to explore and validate HRM as a new screening method, we analysed 26 HB patients with previous CSGE-detected mutations, 22 patients with CSGE-undetectable mutations and 13 HB patients who had not been previously investigated.

Results

All 61 investigated samples, including the previously investigated and not previously investigated samples, proved to be HR

SUBMITTER: Salviato R 

PROVIDER: S-EPMC6343595 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature