Ontology highlight
ABSTRACT:
SUBMITTER: Alberola TM
PROVIDER: S-EPMC2719074 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Alberola Trinitat M TM Bautista-Llácer Rosa R Fernández Esther E Vendrell Xavier X Pérez-Alonso Manuel M
Journal of assisted reproduction and genetics 20090501 5
<h4>Purpose</h4>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.<h4>Methods</h4>Huntington Disease (HD) had to be diagnosed using short tandem repeat (STR) markers linked to the HTT gene. The mutation c.1551_1552ins20 was a ...[more]