A linguistically informed autosomal STR survey of human populations residing in the greater Himalayan region.

The greater Himalayan region demarcates two of the most prominent linguistic phyla in Asia: Tibeto-Burman and Indo-European. Previous genetic surveys, mainly using Y-chromosome polymorphisms and/or mitochondrial DNA polymorphisms suggested a substantially reduced geneflow between populations belonging to these two phyla. These studies, however, have mainly focussed on populations residing far to the north and/or south of this mountain range, and have not been able to study geneflow patterns within the greater Himalayan region itself.

[Current status and implication of research on Bardet-Biedl syndrome].

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy, obesity, polydactyly, renal malformations and functional abnormalities, learning disabilities and hypogenitalism. BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease.

Resveratrol inhibits inflammatory responses via the mammalian target of rapamycin signaling pathway in cultured LPS-stimulated microglial cells.

Background: Resveratrol have been known to possess many pharmacological properties including antioxidant, cardioprotective and anticancer effects. Although current studies indicate that resveratrol produces neuroprotection against neurological disorders, the precise mechanisms for its beneficial effects are still not fully understood. We investigate the effect of anti-inflammatory and mechamisms of resveratrol by using lipopolysaccharide (LPS)-stimulated murine microglial BV-2 cells.

[Rhesus monkey embryonic stem cells differentiation, proliferation and allotransplantation].

To investigate the characteristics of rhesus monkey embryonic stem cells and to promote their clinical application, the differentiation and proliferation of rosettes neural stem cells from GFP marked rhesus monkey embryonic stem cells were studied The results showed that: 1) A stable and high-efficient neural differentiation system was established. More than 95% of the embryonic stem cells were differentiated into neural stem cells on the 12(th) days of differentiation; 2) the rosettes neural stem cells differentiated from the rhesus monkey embryonic stem cells could maintain their rosettes-shape by proliferating with bFGF/EGF; 3) the neural stem cells could differentiate into neurons after transplanted into the rhesus monkey brain. In conclusion, the rosettes neural stem cells differentiated from rhesus monkey embryonic stem cells could maintain their characteristics after proliferation with bFGF/EGF and they could survive and differentiate into neurons after transplanted into the rhesus monkey brain, which strongly supports the clinical application of neural stem cells in the future.

Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia.

The regional distribution of an ancient Y-chromosome haplogroup C-M130 (Hg C) in Asia provides an ideal tool of dissecting prehistoric migration events. We identified 465 Hg C individuals out of 4284 males from 140 East and Southeast Asian populations. We genotyped these Hg C individuals using 12 Y-chromosome biallelic markers and 8 commonly used Y-short tandem repeats (Y-STRs), and performed phylogeographic analysis in combination with the published data.

Y-chromosome distributions among populations in Northwest China identify significant contribution from Central Asian pastoralists and lesser influence of western Eurasians.

Northwest China is closely adjacent to Central Asia, an intermediate region of the Eurasian continent. Moreover, the Silk Road through the northwest of China once had a vital role in the east-west intercommunications. Nevertheless, little has been known about the genetic makeup of populations in this region.

The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.

Background: The emergence of agriculture about 10,000 years ago marks a dramatic change in human evolutionary history. The diet shift in agriculture societies might have a great impact on the genetic makeup of Neolithic human populations. The regionally restricted enrichment of the class I alcohol dehydrogenase sequence polymorphism (ADH1BArg47His) in southern China and the adjacent areas suggests Darwinian positive selection on this genetic locus during Neolithic time though the driving force is yet to be disclosed.

Haplotype-based case-control study of the human AGTR1 gene and essential hypertension in Han Chinese subjects.

Objectives: Essential hypertension is considered to be a multifactorial trait resulting from the combined influence of environmental and genetic determinants. The aim of the study is to assess the association between the human AGTR1 gene and essential hypertension (EH) using a haplotype-based case-control study in Han Chinese subjects.

Design And Methods: Seven tag SNPs and the A1166C polymorphism of the AGTR1 gene were genotyped in 510 hypertension subjects and 510 normotensive subjects using PCR-RFLP method.

[Cyclin D1 gene G870A polymorphism and susceptibility to nasopharyngeal carcinoma].

Objective: The aim of this study was to investigate the susceptibility and prognostic implications of the cyclin D1 gene (CCND1) G870A polymorphism to nasopharyngeal carcinomas (NPC) in Han population in Yunnan China.

Methods: Two hundred and forty one cases with NPC and 271 matched cancer-free controls were genotyped for the CCND1 G870A polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing. The adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated by using unconditional logistic regression model.

Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia.

The tumor suppressor p53 is a master sensor of stress. Two human-specific polymorphisms, p53 codon 72 and MDM2 SNP309, influence the activities of p53. There is a tight association between cold winter temperature and p53 Arg72 and between low UV intensity and MDM2 SNP309 G/G in a cohort of 4029 individuals across Eastern Asia that suggests causative selection.

Allele frequency distribution of 21 forensic autosomal STRs in 7 populations from Yunnan, China.

This study examines the genotypes and allele frequency distributions of 21 forensic autosomal STRs for 7 populations from Yunnan province, China: Han (two different population samples, n=48 and n=59, respectively), Nu (n=36), Tibetan (n=31), Du Long (n=24), Lisu (n=25) and Yi (n=24). Pairwise FST analysis shows (marginally) significant differences between some of the Yunnan populations, but not between the Yunnan populations and other population samples from China and surrounding countries.

Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations.

Background: The phylogeography of the Y chromosome in Asia previously suggested that modern humans of African origin initially settled in mainland southern East Asia, and about 25,000-30,000 years ago, migrated northward, spreading throughout East Asia. However, the fragmented distribution of one East Asian specific Y chromosome lineage (D-M174), which is found at high frequencies only in Tibet, Japan and the Andaman Islands, is inconsistent with this scenario.

Results: In this study, we collected more than 5,000 male samples from 73 East Asian populations and reconstructed the phylogeography of the D-M174 lineage.

Gene admixture in ethnic populations in upper part of Silk Road revealed by mtDNA polymorphism.

To evaluate the gene admixture on the current genetic landscape in Gansu Corridor (GC) in China, the upper part of the ancient Silk Road which connects the Eastern and Central Asia, we examined mitochondrial DNA (mtDNA) polymorphisms of five ethnic populations in this study. Using PCR-RFLP and sequencing, we analyzed mtDNA haplotypes in 242 unrelated samples in three ethnic populations from the GC region and two ethnic populations from the adjacent Xinjiang Uygur Autonomous Region of China. We analyzed the data in comparison with the previously reported data from Eastern, Central and Western Asia and Europe.

[Extraction and analysis of nuclear DNA from free margin of nail material].

To investigate the feasibility of DNA analysis from free margin of the nail, genomic DNA was extracted from the free margin of nail clipping of 10 volunteers using the proteinase K/SDS -based organic method, the Chelex-100 method, or a combined method. Target DNA was simultaneously amplified using a fluorescent multiplex AmpFlSTR Identifier kit. The PCR products were analyzed on the ABI PRISM 3130 Genetic Analyzer.

[The production of gastrodin through biotransformation of p-hydroxybenzaldehyde by cell suspension culture of Datura stramonium].

Aim: To investigate the production of p-hydroxymethylphenol-beta-D-glucoside (gastrodin) through biotransformation by plant cell suspension cultures.

Methods: Using cell suspension cultures of Datura stramonium to convert the exogenous p-hydroxybenzaldehyde into gastrodin was conducted and the converted compounds were separated with a combination of multi-chromatography. Their chemical structures were determined on the basis of spectral analysis and chemical evidence.

[Production of gastrodin through biotransformation of p-hydroxybenzaldehyde by cell suspension cultures of Datura tatula L].

The conversion of exogenous p-hydroxybenzaldehyde to p-hydroxy-methyl-phenol-beta-D-glucoside (gastrodin) was studied by using cell suspension culture of Datura tatula L. The chemical structure of this synthesized gastrodin was identified based on the spectral analysis and chemical evidence. The conversion procedure of p-hydroxybenzaldehyde into gastrodin by D.

Y-chromosome evidence of southern origin of the East Asian-specific haplogroup O3-M122.

The prehistoric peopling of East Asia by modern humans remains controversial with respect to early population migrations. Here, we present a systematic sampling and genetic screening of an East Asian-specific Y-chromosome haplogroup (O3-M122) in 2,332 individuals from diverse East Asian populations. Our results indicate that the O3-M122 lineage is dominant in East Asian populations, with an average frequency of 44.

[The polymorphism of Y chromosome and mtDNA distribution among two Bai populations].

In the same ethnic group, people residing at different places may have genetic difference. The difference can be the results of migration and admixture events happened in history. To clarify the genetic relationship and micro-evolution of two Bai ethnic populations residing in Yunnan and Hunan province respectively,we investigated their genetic difference from paternal and maternal genealogy with six other ethnic groups as outgroups.

[Genetic polymorphism of mitochondrial DNA in coding region in 16 ethnic populations of Yunnan].

The genetic polymorphism of mitochondrial DNA in the coding region in 16 ethnic populations of Yunnan was analyzed using PCR-RFLP in a total of 654 samples. Seventeen haplogroups were found, four of which were undefined haplogroups. Haplogroup distribution and Principal Component (PC) analysis showed that the ethnic groups descended from Bai-Yue tribe have B, F and M7 as the predominant haplogroups,which indicated their origination from southern China.

[Principal component analysis of Y-chromosome haplotype distribution in 18 ethnic groups in Yunnan Province].

Based on the historical records, 18 of the 26 ethnic groups in Yunnan Province are the descendant populations of three ancient tribes, Bai-Yue, Bai-Pu and Di-Qiang, linguistically belonging to the Daic, Austro-Asiatic and Tibeto-Burman, respectively. In order to trace the origins of these native ethnic groups, a total of 13 East Asian specific Y-chromosome biallelic markers were used to study the genetic structure of 20 local populations covering all the 18 ethnic groups in Yunnan Province. Haplotypes were analysis by PCR-RFLP method.

[The genetic evidence for sympatric speciation pattern of Cyprinus from Erhai Lake].

In the present paper, mtDNA RFLP and mtDNA D-loop sequencing were investigated in three species of Cyprinus from Erhai Lake. The results indicated that two mtDNA haplotypes were identified in three species of Cyprinus from Erhai Lake by using 16 restriction endonucleases. All individuals share the dominant type I except one individual of C.

[The frequency distribution of flavin-containing monooxygenase 3 mutant alleles in 28 populations from Yunnan].

Objective: To study the frequency distribution of flavin-containing monooxygenase 3 (FMO3) mutant alleles in 28 populations originating from 24 ethnic minorities in Yunnan of China.

Methods: FMO3 genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism.

Results: The average frequencies of FMO3/Stop(148), FMO3/Lys(158) and FMO3/Gly(308) were 0.