Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.

ABSTRACT:

Background

Primary immunodeficiency is a life-threatening genetic disease that appeared to have an increased incidence in Manitoba Mennonites. Determining the genetic basis of this immunodeficiency was an essential step for providing early and appropriate medical intervention.

Methods

Initially, DNA from probands affected with primary immunodeficiency and their family members was assessed for linkage to genes previously associated with immunodeficiency. Candidate genes were sequenced to identify the causative mutation. The frequency of the mutation among first and second degree relatives, as well as apparently unrelated community members was analyzed using a PCR-based assay.

Results

A previously described c.1624-11G>A mutation in ZAP70 was identified as the causative

SUBMITTER: Schroeder ML 

PROVIDER: S-EPMC4957335 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature