Figure 4.

Sequence Comparison of Standard and Non-Standard Haplotypes

On the basis of sequence variants in the SSLP, D4F104S1, the proximal D4Z4 unit, the internal D4Z4 unit, and distal sequences, all haplotypes could be grouped into two major haplogroups: major group 1 (blue) and major group 2 (orange). Indicated are the name of the haplotype (column 1), the number of individual chromosomes that were sequenced for each haplotype (column 2), and the specific sequence variants (SNPs, VNTR, and other variables). Column 3 shows the chromosomal location of the D4Z4 haplotype. The top row shows all different possibilities for each sequence variation in the different regions of the D4Z4 locus (SSLP, D4F104S1, proximal D4Z4 unit, internal D4Z4 unit, and distal sequences). The bottom row shows the position of the SNPs in the GenBank sequence AF117653 for all different regions. All SNPs in SSLP and D4F104S1 are depicted as nucleotide changes, and SNPs in D4Z4 are depicted as the presence (1) or absence (2) of a specific restriction site (B = BlnI, P = PvuII, M = MscI, and X = XapI). The last column shows the distal A, B, or C variations indicated by A, AL, B, and C. The distal AL variation has previously been identified and carries a larger (L) partial distal D4Z4 unit but an identical region distal to D4Z4.³⁵