. 2014 Nov 1;18(11):741–748. doi: 10.1089/gtmb.2014.0175

Table 2.

Haplotype Analysis of Families Linked to the ATP6V1B1 Gene with P.Ile386Hisfs^*56 Mutation

Marker		D2S2113	D2S443	D2S2604	ATP6V1B1	D2S1581E	D2S291	D2S2977
Physical position (Mb)^a		70.52 Mb	70.79 Mb	70.95 Mb	71.19 Mb	71.37 Mb	71.93 Mb	72.12 Mb
Families with p.Ile386Hisfs*56 founder mutation	dRTA-3-1	200	236	246	*p.Ile386Hisfs^56**	528	186	232
		200	236	246	*p.Ile386Hisfs^56**	528	186	232
	dRTA-4-1	198	236	246	*p.Ile386Hisfs^56**	528	186	236
		198	236	246	*p.Ile386Hisfs^56**	528	186	236
	dRTA-5-1	198	236	246	*p.Ile386Hisfs^56**	528	186	232
		198	236	246	*p.Ile386Hisfs^56**	528	186	232
	dRTA-11-1	198	246	246	*p.Ile386Hisfs^56**	528	186	236
		198	246	246	*p.Ile386Hisfs^56**	528	186	232
	dRTA-15-1	190	224	246	*p.Ile386Hisfs^56**	528	186	204
		190	224	246	*p.Ile386Hisfs^56**	528	186	204
	dRTA-19-1	202	236	246	*p.Ile386Hisfs^56**	528	186	232
		202	236	246	*p.Ile386Hisfs^56**	528	186	232
	dRTA-20-1	192	240	246	*p.Ile386Hisfs^56**	528	192	224
		192	228	246	*p.Ile386Hisfs^56**	528	180	212
	dRTA-21-1	200	236	246	*p.Ile386Hisfs^56**	528	186	232
		200	236	246	*p.Ile386Hisfs^56**	528	186	232
	dRTA-25-1	198	236	246	*p.Ile386Hisfs^56**	528	186	236
		198	236	246	*p.Ile386Hisfs^56**	528	186	236
	dRTA-22-1	200	236	246	*p.Ile386Hisfs^56**	528	186	232
		188	244	230	-	528	184	228
	θ		0.00814	0.00188	-	0.00243	0.00796	0.00796
	δ		0.5495				0.8804	0.5338
	G		129.019					136.078

The parts of the ancestral haplotype shared homozygously by all patients are indicated in bold and those shared by a subset of patients are indicated in italics.

^{^a}

Physical position in Mb obtained from www.ncbi.nlm.nih.gov

Gray Shade: common haplotypes shared between patients.

θ: is the recombination rate between ATP6V1B1 and the markers; δ: The linkage disequilibrium index was calculated using the Bengtsson and Thomson formula (1981) (see Materials and Methods section) and G: is number of generation.