Genetic relationship of populations in China

Chu, Jiayou; Huang, Wei; Kuang, Sulan; Wang, J. M.; Xu, Jun; Chu, Zhengtao; Yang, Zhili; Lin, Keqin; Li, P.; Wu, Min; Geng, Zuojun; Tan, Chang; Du, Ru Xu; Jin, Li

doi:10.1073/pnas.95.20.11763

Cited by 334 publications

(275 citation statements)

References 23 publications

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“…Northeast Asia is the major contributor to both Tibet (63.4%) and Tamang (59.7%) whereas Newar (44.7%) and Bhutan (41.1%) received equivalent percentages, followed by Kathmandu (22.3%). These results corroborate studies indicating a shared common ancestry between Tibet and the Northeast Asian collections of Japan and Korea by a variety of marker systems, including classical, 61,62 autosomal, 63 Y-chromosome 1,12,64,65 and mtDNA. 12,64,66,67 On the genetic origins of the Tibeto-Burman populations of the Himalayas T Gayden et al…”

Section: 0346supporting

confidence: 89%

Genetic insights into the origins of Tibeto-Burman populations in the Himalayas

et al. 2009

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The Himalayan mountain range has played a dual role in shaping the genetic landscape of the region by (1) delineating east-west migrations including the Silk Road and (2) restricting human dispersals, especially from the Indian subcontinent into the Tibetan plateau. In this study, 15 hypervariable autosomal STR loci were employed to evaluate the genetic relationships of three populations from Nepal (Kathmandu, Newar and Tamang) and a general collection from Tibet. These Himalayan groups were compared to geographically targeted worldwide populations as well as Tibeto-Burman (TB) speaking groups from Northeast India. Our results suggest a Northeast Asian origin for the Himalayan populations with subsequent gene flow from South Asia into the Kathmandu valley and the Newar population, corroborating a previous Y-chromosome study. In contrast, Tamang and Tibet exhibit limited genetic contributions from South Asia, possibly due to the orographic obstacle presented by the Himalayan massif. The TB groups from Northeast India are genetically distinct compared to their counterparts from the Himalayas probably resulting from prolonged isolation and/or founder effects.

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Section: 0346supporting

confidence: 89%

Genetic insights into the origins of Tibeto-Burman populations in the Himalayas

et al. 2009

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“…36 This study represents the largest number of founder event mutation profiles identified so far in Han populations. On the basis of the presumed population distribution and migration patterns of Han populations in East Asia as determined by population genetic studies 30 and the specific haplotypes of these founder mutations, we speculate that these common mutations in the PTS gene of East Asian individuals all originated from Han populations.…”

Section: Selection Of a Marker For Linkage Analysismentioning

confidence: 91%

“…29 Excluding the Filipinos, no significant difference in the allele frequency for D11S1347 was seen across the populations studied (P40.05 for all groups), although a distinction has been previously proposed for southern and northern populations in East Asia. 30 The founder events and mutations in East Asia To examine the possibility of founder event effects involving the PTS common mutations observed in East Asia, the haplotype of mutations in conjunction with D11S1347 alleles were evaluated by DNA analysis for samples where samples from the parents of probands were available. There were 43 (Table 2, Po0.01 for all groups).…”

Section: Selection Of a Marker For Linkage Analysismentioning

confidence: 99%

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Chiu

Chang²,

et al. 2012

J Hum Genet

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The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS, gene symbol: PTS) is involved in the second step of the de novo biosynthesis of tetrahydrobiopterin (BH4), which is a vital cofactor of nitric oxide synthases and three types of aromatic amino acid hydroxylases; the latter are important enzymes in the production of neurotransmitters. We conducted a study of PTS mutations in East Asia, including Taiwan, Mainland China, Japan, South Korea, the Philippines, Thailand and Malaysia. A total of 43 mutations were identified, comprising 22 previously reported mutations and 21 new discovered mutations. Among these, the c.155A4G, c.259C4T, c. 272A4G, c.286G4A and c.84-291A4G mutations were the most common PTS mutations in East Asia, while the c.58T4C and c.243G4A mutations were, respectively, specific to Filipinos and Japanese originating from Okinawa. Further studies demonstrated that each of the mutations listed above was in linkage disequilibrium to a specific allele of polymorphic microsatellite marker, D11S1347. These results suggest the presence of founder effects that have affected these frequent mutations in East Asia populations. In this context, D11S1347 should become one of the most reliable polymorphic markers for use in prenatal diagnosis among PTPS deficient families, especially where mutations are yet to be identified.

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“…15 Moreover, the STR loci are especially valuable for the study of genetic relationships of closely related populations. [16][17][18][19] In this study, we applied the autosomal STR variation analysis to three population samples from Tibet to explore the peopling of the Himalayas.…”

Section: Introductionmentioning

confidence: 99%

Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs

Kang

Gupta

et al. 2010

J Hum Genet

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In the previous studies, the populations in Tibet exhibited a complicated genetic structure, indicating that those populations might be the admixture of East Asian and South/Central Asian populations, or have a North Asian origin. However, there have not been sufficient genetic data to support this hypothesis. In this study, we analyzed 15 autosomal polymorphic tetranucleotide short tandem repeat loci (D5S818, FGA, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51) for three populations from Tibet, namely, Deng/Mishmi (n¼114), Qamdo Tibetan (n¼78) and Lhasa Tibetan (n¼101). The total number of observed alleles and the average heterozygosity for all samples were 394 and 0.7574, respectively. Analysis of molecular variance and estimated G ST (0.0198) for these allele frequency data suggested the genetic divergence among Tibetan populations was significant. Furthermore, our new allele frequency data for 13 loci were compared with those of 41 world populations previously reported. Results from phylogenetic and multidimensional scaling analyses indicated that: (1) the Deng in Tibet has unique genetic characteristics different from the Tibetans; (2) populations living in the Himalayas area (Deng, Luoba/Adi) composed of a distinct cluster and are closely related to each other than to any other ethnic groups in East Asia; (3) the Tibetans are most similar to the North Asians. This genetic structure is consistent with the geographical barriers and linguistic classifications.

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Genetic relationship of populations in China

Cited by 334 publications

References 23 publications

Genetic insights into the origins of Tibeto-Burman populations in the Himalayas

Genetic insights into the origins of Tibeto-Burman populations in the Himalayas

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs

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