TABLE 2.

CBS Haplotypes Observed in Control Chromosomes

			Populationb
Haplotypea	Detection method	X, number of c.1444_1467+7(16_21) VNTR repeats	Czech	African
c.[833T;-] haplotypes
[G; T; T; –; C; α; X; C]	P	21	−	+
[G; C; T; –; C; β X; C]	H	19	−	+
[G; T; T; –; C; β X; C]	H	19	−	+
[G; T; T; –; C; γ; X; C]	H	19	+	−
[G; T; T; –; C; γ; X; T]	H	18	+	+
same as above	H	19	+	+
[G; C; T; –; C; δ; X; C]	H	18	+	+
same as above	H	21	+	+
[G; C; T; –; C; δ; X; T]	H	17	+	+
same as above	H	18	+	+
same as above	H	19	+	+
same as above	H	21	+	+
[G; T; T; –; C; δ; X; T]	H	17	+	+
same as above	H	18	+	+
same as above	H	21	+	+
[G; C; T; –; T; δ; X; C]	H	18	+	−
[G; T; T; –; T; δ; X; C]	P	16	+	−
same as above	H	18	+	−
[G; C; T; –; T; δ; X; T]	H	18	+	−
c.[833C; 844_845ins68] haplotypes
[G; C; C; ins; C; α; X; C]	P	18	−	+
[G; C; C; ins; C; β; X; T]	H	17	+	+
same as above	H	18	+	+
same as above	H	21	+	+
[A; C; C; ins; C; β; X; T]	P	17	+	−
[G; C; C; ins; T; β; X; T]	P	17	−	+
[G; T; C; ins; C; β; X; T]	H	17	−	+
[G; C; C; ins; C; δ; X; C]	P	21	−	+
[G; C; C; ins; C; δ; X; T]	H	17	−	+
same as above	H	19	−	1

Haplotypes were determined either by homozygosity of at least 11 markers (detection method H) or by physical haplotyping (detection method P).

^aHaplotypes are described in relation to the reference CBS haplotype- NM_000071.1: c.[-3792G>A; 699C>T; 833T>C; 844_845ins68; 1080C>T; intron 12 cluster; c.1444_1467+7(16_21); *543T>C], for details see Patients and Methods. The intron 12 variants C.1358+161G>A, c.1358 + 264A>G, c.1359-219C>T, c.1359-134G>A and c.1359-30C>T were clustered as follows: α, [G; G; C; G; C]; β, [G; G; C; A;T]; γ [G; G; T; A; T] and δ, [G; A; C; G; C].

^b+, haplotype observed in the studied population sample; −, haplotype not detected in the studied population sample.