Identification of the causative mutation for leopard complex spotting and congenital stationary night blindness in equines and a method for testing for same

摘要

Methods are provided for determining whether or not a horse is genetically normal, is a carrier of, or is affected with or predisposed to Congenital Stationary Night Blindness and/or leopard complex spotting. The method is based on detection of an insertion in an intron in the horse Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene.

主权项

1. A method of screening for, diagnosing or detecting congenital stationary night blindness (CSNB) or detecting or selecting different coat patterns in a horse comprising:
(a) amplifying a sample from a the horse with three primers to identify the presence of an insertion of SEQ ID NO: 1 in the TRPM1 gene after position 108,297,929 of horse chromosome 1 (ECA1), wherein the primers are SEQ ID NOs: 2-4 and (b) identifying the horse as a true solid coat coloured horse and genetically normal for CSNB (lp/lp) if the allele with the insertion is absent, identifying the horse as a spotted horse heterozygous for LP and a carrier for CSNB (LP/lp) if the insertion is present in one allele and identifying the horse as a spotted horse homozygous for LP and that the horse is affected with or predisposed to CSNB (LP/LP) if the insertion is on both alleles.