A recent genetic link between Sami and the Volga-Ural region of Russia

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies

“…An independent estimate based on mtDNA also indicated considerable (48%) admixture of non-Sami European ancestry in the southern Sami. 16 In summary, the HLA class I and class II analyses show that the main genetic contribution to the Swedish Sami has come from European populations. However, the estimated Asian influence in the northern Sami is higher than that indicated by other genetic markers.…”

“…14,15 It has been suggested that during the same time period, there was an influence from Mongolian and Finno-Ugric people in eastern Europe, consistent with the finding of mitochondrial haplogroups with an Asian origin in the Sami population. 16 Although previous data from protein polymorphisms, blood groups, mtDNA and the Y-chromosome have indicated a contribution from Asian populations, the extent of this contribution to the Sami gene pool has not been quantified. A previous study of HLA class II variation indicated a closer relationship between a Sami population from north-western Russia and Oriental (Japanese and Korean) populations compared to non-Sami European populations.…”

“…14,15 Among the haplogroups that are found at low frequencies in the Sami, both D5 and Z are of Asian origin. 14,16 Three major Y-chromosome haplogroups in the Sami (I, N3 and R1a), accounting for 80% of Sami Y-chromosomes, have been identified. The I and R1a haplogroups are common in many European populations, whereas N3 is common in eastern Europe and northern Asia.…”

A genome-wide association study for age-related hearing impairment in the Saami

“…They also found a small East Asian contribution to the gene pool. 18,19 Several genetic studies have further suggested that the extent of linkage disequilibrium (LD) in the Saami is dramatically higher compared to that of outbred populations. [20][21][22][23] Higher levels of LD are observed in other population isolates as well.…”

Genetic Diversity in the Himalayan Populations of Nepal and Tibet

“…Null alleles were detected in two Newari and four Tibetan samples at locus DYS448 as previously described [6,27], while five Kathmandu males were null at DYS458, consistent with the location of a deletion in the short arm of the Y chromosome encompassing the amelogenin locus (Supplementary Table 1) [16,49]. The frequency of the amelogenin Y (AMGY) deletion in the Kathmandu populace (6.49%) is higher than levels previously reported in Nepal (1.2%) [27] and India (1.8%) [50] but lower than that of Sri Lankan males (8%) [51]. Duplication was observed in one individual from Newar at locus DYS458 (alleles 16, 18).…”