Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously.

ABSTRACT:

Purpose

Description of the confluence of different molecular techniques to detect three different mutations in one cell. The man carries a 20 base pair insertion in exon 12 of the POR gene (c.1551_1552ins20), and the woman carries a point mutation in exon 8 of the POR gene (c.859G>C) plus a triplet repeat expansion in the HTT gene.

Methods

Huntington Disease (HD) had to be diagnosed using short tandem repeat (STR) markers linked to the HTT gene. The mutation c.1551_1552ins20 was analyzed by fragment size and c.859G>C was minisequenced. Furthermore, STR markers linked to the POR gene were included to support the diagnosis of P450 oxidoreductase (POR) deficiency.

Results

Nine embryos were diagnosed in total: three as POR deficiency affected, two as HD affected, one as P

SUBMITTER: Alberola TM 

PROVIDER: S-EPMC2719074 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature