Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population

Table 1 Allele frequency of poly-T tract

Number (n)	Number (frequencies) of poly-T tract
	T5	T6	T7	T9
2n = 264	10 (0.0379)	4 (0.0152)	247 (0.9356)	3 (0.0114)

Table 2 Allele frequency of TG-repeat polymorphisms

Number (2n)	Number (frequencies) of TG-repeats
	TG10	TG11	TG12	TG13
264	3 (0.0114)	151 (0.572)	108 (0.4091)	2 (0.0076)
	TG-repeat number (frequencies) in individuals with alleles
	11/11	11/12	12/12	11/13	10/12
132	61 (0.4621)	28 (0.2121)	39 (0.2955)	2 (0.0152)	2 (0.0152)

Table 3 Genotypes and allele frequencies at M470V polymorphic site

Number (2n)	Number (frequencies) of individuals with genotypes			Number (frequencies) of individuals with alleles
	MM	MV	VV	M	V
264	28 (0.2121)	60 (0.4545)	44 (0.3333)	116 (0.4394)	148 (0.5606)

Table 4 Linkage of poly-T, TG-repeats and M470V

Linkage haplotypes	2n (frequencies) (2n = 264)
T7-TG11-V470	125 (0.4735)
T7-TG12-M470	77 (0.2917)
T7-TG11-M470	26 (0.0985)
T7-TG12-V470	18 (0.0682)
T5-TG12-M470	8 (0.0303)
T5-TG12-V470	2 (0.0076)
T7-TG13-M470	2 (0.0076)
T9-TG10-M470	1 (0.0038)
T9-TG10-V470	1 (0.0038)
T6-TG12-M470	2 (0.0076)
T6-TG12-V470	1 (0.0038)
T6-TG11-V470	1 (0.0038)

Table 5 Frequencies of TG-repeats and M470V haplotypes

M470V	(TG) n	n/frequencies (n = 132)
V/V	11/11	35 (0.2625)
M/M	12/12	27 (0.2045)
M/V	11/11	26 (0.1970)
M/V	11/12	20 (0.1515)
M/V	12/12	11 (0.0833)
V/V	11/12	8 (0.0606)
M/V	11/13	2 (0.0152)
V/V	12/12	1 (0.0076)
M/M	10/12	1 (0.0076)
M/V	10/12	1 (0.0076)