Hemophilia – origin of mutation in sporadic hemophilia B

Projekt: Forskning



The general purpose of this research program is to improve the genetic counselling and diagnosis of carriers of sporadic haemophilia B.

Specific aims:
- What is the origin of mutation in sporadic cases of haemophilia B
- The mothers who are carriers – where did the mutation occur? A study of three generations to reveal grandparental male or female origin of mutated X-chromosome.
- The mothers who are not carrier by conventional Sanger sequencing – what is the frequency of mosaicism
- Which is the preferred method to diagnose mosaicism in a clinical setting - SNP (single nucleotide polymorphisms), microsatellites (MS), droplet digital PCR or NGS (Next generation sequencing) by Ion Torrent sequencing?
StatusEj startat

Ämnesklassifikation (UKÄ)

  • Pediatrik