Kirjoittaja Jaska » 14 Joulu 2018 23:00
"Five SNPs within a ~200 kilobase (kb) archaic haplotype on chromosome 1 spanning 1:19244479–19453365 passed the significance threshold (top SNP 1:19365951, p = 3.26 3 106). A second Neandertal haplotype on chromosome 18 (500 kb,
18:60279290–60776578) contains six SNPs that passed the suggestive significance threshold (top SNP 18:60691999, p = 5.66 3 105). A single SNP, representing a 170 kb haplotype on chromosome 14 (14:50535915, p = 9.29 3 105), also passed suggestive significance. All haplotypes showed consistent directions of effect across all five datasets from the three cohorts, with the Neandertal-like haplotypes showing association with more oblong endocranial shape (Figure 3C) and with the top SNPs each showing an additive effect (i.e., heterozygous carriers were intermediate in score between homozygous groups; Figure 3D)."
"The MAFs for the top SNPs were low in all three European cohorts, and very few individuals were homozygous for the Neandertal alleles (1:19365951, MAF = 0.0436, 8 homozygotes; 18:60691999, MAF = 0.052, 6 homozygotes; 14:50535915, MAF = 0.0204, 1 homozygote; Figure 3D)."
Suppdatan taulukosta kaivettu nukleotidit:
1:19365951_UBR4
T, C (C on neandertaalialleeli)
18:60691999_PHLPP1
G, T (T on neandertaalialleeli)
14:50535915
A, G (G on neandertaalialleeli)
Noiden neandertaalialleelien esiintyvyys nykyväestöjen otoksessa on siis 4, 5 ja 2 % vastaavassa järjestyksessä. Jos kummaltakin vanhemmalta on peritty neandertaalialleeli, kallo on vielä litteämpi kuin heterotsygooteilla (vain toiselta vanhemmalta neandertaalialleeli).
Family Finder -datassa tai 23andMe-datassa ei näitä kohtia valitettavasti ole.
~ "Per aspera ad hominem - vaikeuksien kautta henkilökohtaisuuksiin" ~
Y-DNA: N1c1-YP1143 (Olavi Häkkinen 1620 Kuhmo? >> Juhani Häkkinen 1816 Eno)
mtDNA: H5a1e (Elina Mäkilä 1757 Kittilä >> Riitta Sassali 1843 Sodankylä)