Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Table 2 Allele frequencies of D13S141, D13S175, D13S1853, and rs3751385 in the c.35delG homozygotes and in the control samples (individuals without c.35delG)

Markers (location from c.35delG)	Allele^a	Homozygotes for c.35delG (n = 24)					Control samples (n = 67)
Markers (location from c.35delG)	Allele^a	Number of alleles	Allele frequency	χ²	p	δ	Number of alleles	Allele frequency
D13S141 (~ 39.2 kb centromeric)	120	0	0.0000	–	–	0.0000	0	0.0000
	122	0	0.0000	–	–	0.0000	0	0.0000
	124	16	0.3333	7.8	0.0025	−0.5953	78	0.5821
	126	32	0.6667	11	0.0006	0.4618	51	0.3806
	128	0	0.0000	0.71	0.2121	−0.0387	5	0.0373
	Total	48					134
rs3751385 (intragenic, ~ 0.7 kb centromeric)	C	0	0.0000	76	< 10 ⁻²¹	−5.1652	62	0.8378
	T	46	1.0000	76	< 10 ⁻²¹	1.0000	12	0.1622
	Total	46					74
D13S175 (~ 84.8 kb telomeric)	99	0	0.0000	0.002	0.5410	−0.0151	2	0.0149
	101	0	0.0000	2.1	0.0591	−0.0720	9	0.0672
	103	2	0.0417	7.3	0.0016	−0.2467	31	0.2313
	105	41	0.8542	28	< 10 ⁻⁷	0.7588	53	0.3955
	107	0	0.0000	2.5	0.0427	−0.0806	10	0.0746
	109	4	0.0833	0.45	0.2570	−0.0589	18	0.1343
	111	0	0.0000	0.002	0.5410	−0.0151	2	0.0149
	113	1	0.0208	0.46	0.2616	−0.0413	8	0.0597
	115	0	0.0000	0.29	0.7363	−0.0076	1	0.0075
	Total	48					134
D13S1853 (~ 277.1 kb telomeric)	200	1	0.0208	0.092	0.4074	−0.0251	6	0.0448
	202	34	0.7083	23	< 10 ⁻⁶	0.5842	40	0.2985
	204	8	0.1667	16	< 10 ⁻⁴	−0.6920	68	0.5075
	206	5	0.1042	0.17	0.3497	−0.0439	19	0.1418
	208	0	0.0000	0.29	0.7363	−0.0076	1	0.0075
	Total	48					134

^a - Designation of the STR allele corresponds to its size in nucleotides; δ - measure of linkage disequilibrium; the maximum indices of linkage disequilibrium and statistically significant (p < 0.05) differences in allele frequencies between the c.35delG homozygotes and the control samples are in bold

ISSN: 1471-2350