Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7

BMC Genomics

Table 1 AIPL1 c.577C > T Genotypes in Persian and Related Breeds

Type^a	Population	No.	Wildtype (CC)	Carrier (CT)	Affected (TT)
Biased	Pedigree^b	85	19	40	26
	Persian	51	43	8	0
	British Shorthair	2	2	0	0
	Exotic	29	26	3	0
	Himalayan	2	2	0	0
	Sub-total	84	73	11	0
Unbiased	Persian	707	685	22	0
	British Shorthair	111	111	0	0
	Exotic	103	102	1	0
	Himalayan	42	42	0	0
	Scottish Fold	68	67	1	0
	Selkirk Rex	13	13	0	0
	Sub-total	1044	1020	24	0
Total		1213	1112	75	0

^aType implies if the cat samples were biased because an owner submitted a sample specifically for the PRA genotyping or unbiased because the laboratory did a population screen of samples submitted for other genetic testing. ^bPedigree cats are related and not considered for allele frequency calculation. British Shorthairs, exotic, Himalayan, Scottish fold and Selkirk rex are cat breeds derived from Persians and are members of the Persian-family of cats [48]

ISSN: 1471-2164