Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.

ABSTRACT:

Background

Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs.

Objectives

To report 3 new breed-specific PK-LR gene mutations and a retrospective survey of PK mutations in as mall and selected group of Beagles and West Highland White Terriers (WHWT).

Animals

Labrador Retrievers (2 siblings, 5 unrelated), Pugs (2 siblings, 1 unrelated), Beagles (39 anemic, 29 other),WHWTs (22 anemic, 226 nonanemic), Cairn Terrier (n = 1).

Methods

Exons of the PK-LR gene were sequenced from genomic DNA of young dogs (<2 years) with persistent highly regenerative hemolytic anemia.

Results

A nonsense mutation (c.799C>T) resulting in a premature stop codon was identified in anemic Labrador Retrie

SUBMITTER: Gultekin GI 

PROVIDER: S-EPMC3650904 | biostudies-literature | 2012 Jul-Aug

REPOSITORIES: biostudies-literature