Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing®technology

BMC Medical Genetics

Table 1 CYP2A612* genotype and allele frequencies by ethnicity as determined by Pyrosequencing

	Genotypes			Alleles^b		Published CYP2A612* allele frequencies (# alleles tested)^ref.
	CYP2A6	CYP2A6	CYP2A6
Population	1/1 ^a	1/12	12/12	CYP2A61*	CYP2A612*
African American	100%	0%	0%	100%	0%	0.4% (n = 268)¹⁷
(n = 47)	(n = 47)	(n = 0)	(n = 0)	(n = 92)	(n = 0)
European Caucasian	98%	2%	0%	99%	1%	2% (n = 1440)¹⁷
(n = 48)	(n = 47)	(n = 1)	(n = 0)	(n = 94)	(n = 1)
Pacific Rim^c	100%	0%	0%	100%	0%	0% (n = 194)⁶
(n = 54)	(n = 52)	(n = 0)	(n = 0)	(n = 97)	(n = 0)	0.3% (n = 354)¹⁷
Hispanic^d	90.60%	9.40%	0%	95.30%	4.70%	2.2% (n = 184)⁶
(n = 32)	(n = 29)	(n = 3)	(n = 0)	(n = 61)	(n = 3)

^a CYP2A6*1 refers to alleles without CYP2A6*12. ^bNumber of alleles based on copy number for CYP2A6. There were individuals with only one copy of CYP2A6 in African Americans (n = 2), European Caucasians (n = 1), and Pacific Rim (n = 7). Two individuals from the Pacific Rim were homozygous for the CYP2A6 gene deletion and were not included in the frequency data. ^cThe Pacific Rim includes Japanese, Chinese, Taiwanese, Melanesian, and Indo Pakistan. ^dThe Hispanic population is representative of the Mexican-American community of Los Angeles for this study and of a region in northern Spain for the referenced published study.

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