Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer.
The first mimics human SMN2 and is a C-T transition at position 6 of exon 7, referred to hereafter as the C-T mutation.
Variant 5 caused a 3' G to A transition at position +3665, between the first poly(A) signal and the poly(A) sites (Fig. 1a, b).
The A- variant differs from the normal G6PD B allele by two missense mutations, an A to G transition at position 376, encoding the so called "B" to "A" change (Asn126Asp), and a G to A transition at position 202, encoding the "A-" change (Val68Met).
For instance, four Shuwa Arabs belong to M1a1 and another within the sub-branch M1a1a (as indicated by a transition at position 14182 and a reversion at position 16249); the distribution of M1a1 is mainly Mediterranean.
The only two differences in the haplogroup M7a2 portions of the originally published sequences NDsq0168 and NDsq0178 constitute the lengths of the elongated C run from position 956 beyond 965 and the transition at position 6455.
Variant 5 was a G to A transition at position +3665 (7391 L19592) between the Poly(A) signal and the Poly(A) sites of the short mRNA (Fig. 1a).
In particular, a predicted functional SNP, the G>C transition at position 501 in the exon 4 has been studied, with different conclusions, as a possible valid genomic biomarker for potential CAD/AMI risk factor [15], [20] [23].
We did not find any particular mutational pattern in the H5 patients (compared to controls) except for a threefold increase of the H5 subgroup (H5a) characterized by a transition at position 4336 (tRNAGln gene) that has been previously shown to be associated with AD [24], [25], and a sevenfold increase of the synonymous mutation at np 15833 which defines the H5a1 sub-haplogroup.
The sequence of the full control region [16024-576] walsolso determined from the remains of Tsar Nicholas II (a tooth from skeleton #4) and matched the published data of HVI and HVII from Gill et al. [3] and Ivanov et al. [4]: 16169Y, 16294T, 16296T, 16519C, 16519C, 73G, 263G, 315.1C with the transition at position 16519 newly characterized in the control region.
The other one (patient #45) described a novel branch of the L2 phylogeny referred to here as L2a5; it shared a transition at position 7175 and a reversion at site 150 with hg L2a (Figure 1), and most of the variants were also shared with another entire genome uploaded in GenBank under accession number HM596745.
