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1.
Sci Rep ; 13(1): 15710, 2023 09 21.
Artigo em Inglês | MEDLINE | ID: mdl-37735611

RESUMO

The Khmuic-speaking populations are believed to be the descendants of one of the earliest groups to settle in Mainland Southeast Asia. In Thailand, there are two agricultural Khmuic-speaking ethnic groups, the Khamu and Lua (Htin). These peoples primarily reside in scattered locations along the mountainous Thailand-Laos border in Nan province. In this study, we conducted genome-wide SNP analysis on 81 individuals from three Khamu and two Lua villages in northern Thailand. Our findings revealed that both the Khamu and Lua groups possess genetic structures that are distinct from other ethnicities in Southeast Asia, indicating a unique history of migration and settlement. Within the Khmuic group, the Khamu populations living in different locations exhibited similar genetic structures and displayed genetic affinities only with some hill-tribes and Tai-Kadai (Kra-Dai)-speaking groups in Thailand, suggesting potential intermixing or cultural exchange. Furthermore, the Lua people displayed a distinctive population structure, which could be attributed to the founder effect and endogamous marriage practices. Additionally, we discovered a relationship between the Khmuic-speaking populations in Thailand and a Neolithic ancient sample obtained from the Tham Pha Ling archaeological site in Laos. This study provides new insight into genetic substructure within the Khmuic-speaking people and their potential relationship to the indigenous inhabitants of Mainland Southeast Asia.


Assuntos
Agricultura , Etnicidade , Humanos , Tailândia , Etnicidade/genética , Arqueologia , Variação Genética
2.
PLoS One ; 18(9): e0291547, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37708147

RESUMO

Previous genome-wide studies have reported South Asian (SA) ancestry in several Mainland Southeast Asian (MSEA) populations; however, additional details concerning population history, in particular the role of sex-specific aspects of the SA admixture in MSEA populations can be addressed with uniparental markers. Here, we generated ∼2.3 mB sequences of the male-specific portions of the Y chromosome (MSY) of a Tai-Kadai (TK)-speaking Southern Thai group (SouthernThai_TK), and complete mitochondrial (mtDNA) genomes of the SouthernThai_TK and an Austronesian (AN)-speaking Southern Thai (SouthernThai_AN) group. We identified new mtDNA haplogroups, e.g. Q3, E1a1a1, B4a1a and M7c1c3 that have not previously reported in Thai populations, but are frequent in Island Southeast Asia and Oceania, suggesting interactions between MSEA and these regions. SA prevalent mtDNA haplogroups were observed at frequencies of ~35-45% in the Southern Thai groups; both of them showed more genetic relatedness to Austroasiatic (AA) speaking Mon than to any other group. For MSY, SouthernThai_TK had ~35% SA prevalent haplogroups and exhibited closer genetic affinity to Central Thais. We also analyzed published data from other MSEA populations and observed SA ancestry in some additional MSEA populations that also reflects sex-biased admixture; in general, most AA- and AN-speaking groups in MSEA were closer to SA than to TK groups based on mtDNA, but the opposite pattern was observed for the MSY. Overall, our results of new genetic lineages and sex-biased admixture from SA to MSEA groups attest to the additional value that uniparental markers can add to studies of genome-wide variation.


Assuntos
Povo Asiático , Genoma Mitocondrial , Feminino , Humanos , Masculino , Tailândia , Povo Asiático/genética , Asiático , DNA Mitocondrial/genética
3.
Heliyon ; 9(7): e17722, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37539171

RESUMO

Ethnopharmacological relevance: This study offers valuable insight into the traditional healing practices of women's healthcare within four Tibeto-Burman groups. By focusing on women's wellness, the research sheds light on the often-neglected yet significant contributions made by women in the field of traditional medicine. Aims of the study: The study seeks to address the gap of studies on the ethnobotany of women healthcare of the Tibeto-Burman groups in Thailand and to analyst the factors that could affect the diversity of ethnobotanical knowledge. Materials and methods: The study compiled data from 15 group-informants residing in 12 different villages. The information gathering process involved a combination of free-listing, semi-structured interviews, group discussion, and the walk-to-the-wood method. To analyze the data, the researchers used various methods such as use-reports, Relative Frequency of Citation (RFC), Relative Importance Index (RI), and Cluster analysis. Results: This study identified 200 plant species used in traditional women's healthcare practices, with leaves being the most frequently used part. Drinking was the most common method for internal use, while bathing and steam were the most emphasized for external use. Blumea balsamifera and Buddleja asiatica had high RI and RFC. Cluster analysis revealed that group-informants were divided by ethnicity and geographical location. Conclusion: This study contributes to the understanding of traditional healthcare practices among Tibeto-Burman groups in Thailand, with a particular focus on women's wellness. The results provide insight into the ethnobotanical knowledge of these communities and highlight the important role played by women in traditional medicine. The study underscores the need for continued research in this field to preserve and utilize this valuable knowledge.

4.
Microorganisms ; 11(3)2023 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-36985222

RESUMO

Northern Thailand, the main part of the Lanna region, is home to a diverse range of ethnic groups, each with their own food and cultural heritage. The bacterial compositions in fermented soybean (FSB) products indigenous to three Lanna ethnolinguistic groups, including Karen, Lawa, and Shan, were investigated in this study. Bacterial DNA was extracted from the FSB samples and subjected to 16S rRNA gene sequencing using the Illumina sequencing platform. Metagenomic data showed that the predominant bacteria in all FSBs were members of the genus Bacillus (49.5-86.8%), and the Lawa FSB had the greatest bacterial diversity. The presence of genera Ignatzschineria, Yaniella, Atopostipes in the Karen and Lawa FSBs and Proteus in the Shan FSB might be indicators of food hygiene problems during processing. The network analysis predicted antagonistic effects of Bacillus against some indicator and pathogenic bacteria. The functional prediction revealed some potential functional properties of these FSBs. The presence of Bacillus in all FSBs and Vagococcus in the Shan FSB suggests that these FSBs could potentially be good sources of beneficial bacteria, and they should be conserved and promoted for health and food security reasons. However, food processing hygiene measures should be introduced and monitored to warrant their properties as health foods.

5.
Sci Prog ; 105(2): 368504221103776, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35635263

RESUMO

Cetaceans inhabit oceans throughout the world. Four specific odontocetes, namely Cuvier's beaked whale (Ziphius cavirostris), Indo Pacific finless porpoise (Neophocaena phocaenoides), pygmy sperm whale (Kogia breviceps), and dwarf sperm whale (Kogia sima), have occasionally been found stranded along Thailand's coastal waters (the Andaman Sea and the Gulf of Thailand). Although shared haplotypes of each species for many locations have been found, and some species have revealed genetic structure through haplotype networks, cetaceans in Thai waters have never been investigated in terms of comparing haplotypes to those that have existed before. Herein, we have illustrated the matrilineally phylogeographic relationships among worldwide populations through Bayesian Phylogenetic tree computations using Markov Chain Monte Carlo (MCMC) and Median-Joining Networks (MJNs). Unique haplotypes of the control region mitochondrial DNA of Thai odontocetes were found for all species. Moreover, a high degree of worldwide haplotype diversity (hd) above 0.8 among the four species was detected, while the lowest degree of nucleotide diversity (π) was observed in the Indo Pacific finless porpoise (1.12% ± 0.184%). An expansion of the effective female population size worldwide of three odontocete species was detected using Bayesian Skyline Reconstruction, but this did not include the Indo Pacific finless porpoise. Because Thai seas are located within the Indo Polynesian province, where this biodiversity hotspot exists, we speculate that these odontocetes may also inhabit specific habitats within the Malay Peninsula and Thailand's territorial waters. Therefore, closer attention and monitoring of these cetacean populations will be necessary for future conservation efforts.


Assuntos
Toninhas , Baleias , Animais , Teorema de Bayes , DNA Mitocondrial/genética , Feminino , Filogenia , Toninhas/genética , Tailândia
6.
Animals (Basel) ; 12(3)2022 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-35158560

RESUMO

The dugong (Dugong dugon) is an endangered species of marine mammals, so knowledge of genetic diversity of these populations is important for conservation planning within different habitats. In this study, six microsatellite markers were used to assess the genetic diversity and population structure of 77 dugongs from skin samples of stranded animals collected from 1994-2019 (69 from Andaman Sea and 8 from the Gulf of Thailand). Our results found that dugongs in the Andaman Sea had higher genetic variation than those in the Gulf of Thailand. Populations in Trang, Satun, and some areas of Krabi had highest diversity compared to other regions of Thailand. Bayesian genetic clustering analysis revealed that dugongs in Thailand consist of five genetic groups. Moreover, dugongs in the middle and lower Andaman Sea presented the greatest gene flow compared to other regions. However, based on calculation of inbreeding coefficients (Fis value = 0.239), dugong populations in the Sea of Thailand are experiencing some levels of inbreeding, and so may warrant special protections. These results provide important information for understanding the genetic status of dugongs that can lead to improved management and conservation of this endangered species.

7.
PLoS Genet ; 18(2): e1010036, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35176016

RESUMO

The great ethnolinguistic diversity found today in mainland Southeast Asia (MSEA) reflects multiple migration waves of people in the past. Maritime trading between MSEA and India was established at the latest 300 BCE, and the formation of early states in Southeast Asia during the first millennium CE was strongly influenced by Indian culture, a cultural influence that is still prominent today. Several ancient Indian-influenced states were located in present-day Thailand, and various populations in the country are likely to be descendants of people from those states. To systematically explore Indian genetic heritage in MSEA populations, we generated genome-wide SNP data (using the Affymetrix Human Origins array) for 119 present-day individuals belonging to 10 ethnic groups from Thailand and co-analyzed them with published data using PCA, ADMIXTURE, and methods relying on f-statistics and on autosomal haplotypes. We found low levels of South Asian admixture in various MSEA populations for whom there is evidence of historical connections with the ancient Indian-influenced states but failed to find this genetic component in present-day hunter-gatherer groups and relatively isolated groups from the highlands of Northern Thailand. The results suggest that migration of Indian populations to MSEA may have been responsible for the spread of Indian culture in the region. Our results also support close genetic affinity between Kra-Dai-speaking (also known as Tai-Kadai) and Austronesian-speaking populations, which fits a linguistic hypothesis suggesting cladality of the two language families.


Assuntos
Povo Asiático/genética , Etnicidade/genética , Sudeste Asiático/etnologia , Variação Genética/genética , Genética Populacional/métodos , Haplótipos/genética , Humanos , Índia/etnologia , Idioma , Polimorfismo de Nucleotídeo Único/genética , Tailândia/etnologia
8.
Biology (Basel) ; 11(1)2022 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-35053147

RESUMO

The Lanna region, the main part of northern Thailand, is a place of ethnic diversity. In this study, we investigated phak-gard-dong (PGD), or pickled mustard green (Brassica juncea L. Czern.), for its beneficial bacteria content and to analyse the variations in bacterial compositions among the PGD of three different ethnolinguistic groups, the Karen, Lawa, and Shan. DNA was extracted from the PGD pickled brine, and 16S rRNA gene Illumina sequencing was performed. Metagenomic data were analysed and the results demonstrated that the dominant bacterial species were Weissella (54.2%, 65.0%, and 10.0%) and Lactobacillus (17.5%, 5.6%, and 79.1%) in the PGD of the Karen, Lawa, and Shan, respectively. Pediococcus was found only in the PGD of the Karen and Shan. Bacterial communities in PGD of the Lawa were distinctive from the other ethnic groups, both in the alpha and beta diversity, as well as the predicted functions of the bacterial communities. In addition, overall network analysis results were correlated to bacterial proportions in every ethnic PGD. We suggest that all ethnic PGDs have the potential to be a good source of beneficial bacteria, warranting its conservation and further development into health food products.

9.
Sci Rep ; 12(1): 655, 2022 01 13.
Artigo em Inglês | MEDLINE | ID: mdl-35027632

RESUMO

Southern Thailand is home to various populations; the Moklen, Moken and Urak Lawoi' sea nomads and Maniq negrito are the minority, while the southern Thai groups (Buddhist and Muslim) are the majority. Although previous studies have generated forensic STR dataset for major groups, such data of the southern Thai minority have not been included; here we generated a regional forensic database of southern Thailand. We newly genotyped common 15 autosomal STRs in 184 unrelated southern Thais, including all minorities and majorities. When combined with previously published data of major southern Thais, this provides a total of 334 southern Thai samples. The forensic parameter results show appropriate values for personal identification and paternity testing; the probability of excluding paternity is 0.99999622, and the combined discrimination power is 0.999999999999999. Probably driven by genetic drift and/or isolation with small census size, we found genetic distinction of the Maniq and sea nomads from the major groups, which were closer to the Malay and central Thais than the other Thai groups. The allelic frequency results can strength the regional forensic database in southern Thailand and also provide useful information for anthropological perspective.


Assuntos
Genética Forense , Genética Populacional , Repetições de Microssatélites/genética , Grupos Populacionais/genética , Alelos , Bases de Dados Genéticas , Conjuntos de Dados como Assunto , Feminino , Frequência do Gene , Deriva Genética , Humanos , Masculino , Tailândia
10.
Genes (Basel) ; 14(1)2022 12 29.
Artigo em Inglês | MEDLINE | ID: mdl-36672844

RESUMO

BACKGROUND: Generalized pustular psoriasis (GPP; MIM 614204) is a rare multisystemic autoinflammatory disease, characterized by episodes of acute generalized erythema and scaling developed with the spread of numerous sterile pustules. Adult-onset immunodeficiency syndrome (AOID) with anti-interferon-γ autoantibodies is an immunodeficiency disorder associated with disruptive IFN-γ signaling. METHODS: Clinical examination and whole exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Histopathological and immunohistochemical studies were performed. RESULTS: WES identified four Thai patients presenting with similar pustular phenotypes-two with a diagnosis of GPP and the other two with AOID-who were found to carry the same rare TGFBR2 frameshift mutation c.458del; p.Lys153SerfsTer35, which is predicted to result in a marked loss of functional TGFBR2 protein. The immunohistochemical studied showed overexpression of IL1B, IL6, IL17, IL23, IFNG, and KRT17, a hallmark of psoriatic skin lesions. Abnormal TGFB1 expression was observed in the pustular skin lesion of an AOID patient, suggesting disruption to TGFß signaling is associated with the hyperproliferation of the psoriatic epidermis. CONCLUSIONS: This study implicates disruptive TGFBR2-mediated signaling, via a shared truncating variant, c.458del; p.Lys153SerfsTer35, as a "predisposing risk factor" for GPP and AOID.


Assuntos
Doenças da Imunodeficiência Primária , Psoríase , Dermatopatias Vesiculobolhosas , Humanos , Interleucinas/genética , Doenças da Imunodeficiência Primária/patologia , Psoríase/genética , Psoríase/patologia , Receptor do Fator de Crescimento Transformador beta Tipo II/genética , Pele/patologia , Dermatopatias Vesiculobolhosas/patologia
11.
Sci Rep ; 11(1): 11624, 2021 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-34078973

RESUMO

Dugong (Dugong dugon) populations have been shrinking globally, due in large part to habitat fragmentation, degradation and ocean pollution, and today are listed as Vulnerable by the IUCN. Thus, determining genetic diversity in the remaining populations is essential for conservation planning and protection. In this study, measures of inter-simple sequence repeat (ISSR) markers and mtDNA D-loop typing were used to evaluate the genetic diversity of 118 dugongs from skin samples of deceased dugongs collected in Thai waters over a 29-year period. Thirteen ISSR primers revealed that dugongs from the Andaman Sea and Gulf of Thailand exhibited more genetic variation in the first 12 years of the study (1990-2002) compared to the last decade (2009-2019). Dugongs from the Andaman Sea, Trang, Satun and some areas of Krabi province exhibited greater diversity compared to other coastal regions of Thailand. Eleven haplotypes were identified, and when compared to other parts of the world (235 sequences obtained from NCBI), five clades were apparent from a total 353 sequences. Moreover, dugongs from the Andaman Sea were genetically distinct, with a separate haplotype belonging to two clades found only in Thai waters that separated from other groups around 1.2 million years ago. Genetic diversity of dugongs in present times was less than that of past decades, likely due to increased population fragmentation. Because dugongs are difficult to keep and breed in captivity, improved in situ conservation actions are needed to sustain genetically healthy wild populations, and in particular, the specific genetic group found only in the Andaman Sea.


Assuntos
DNA Mitocondrial/genética , Dugong/genética , Marcadores Genéticos , Variação Genética , Haplótipos , Filogenia , Animais , Conservação dos Recursos Naturais/métodos , Dugong/classificação , Ecossistema , Espécies em Perigo de Extinção , Feminino , Masculino , Repetições de Microssatélites , Filogeografia , Pele/química , Tailândia
12.
Genes (Basel) ; 12(3)2021 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-33800398

RESUMO

The hill tribes of northern Thailand comprise nine officially recognized groups: the Austroasiatic-speaking (AA) Khmu, Htin and Lawa; the Hmong-Mien-speaking (HM) IuMien and Hmong; and the Sino-Tibetan-speaking (ST) Akha, Karen, Lahu and Lisu. Except the Lawa, the rest of the hill tribes migrated into their present habitats only very recently. The Thai hill tribes were of much interest to research groups focusing on study of cultural and genetic variation because of their unique languages and cultures. So far, there have been several genetic studies of the Thai hill tribes. However, complete forensic microsatellite database of the Thai hill tribes is still lacking. To construct such database, we newly generated 654 genotypes of 15 microsatellites commonly used in forensic investigation that belong to all the nine hill tribes and also non-hill tribe highlanders from northern Thailand. We also combined 329 genotypes from previous studies of northern Thai populations bringing to a total of 983 genotypes, which were then subjected to genetic structure and population relationships analyses. Our overall results indicated homogenous genetic structure within the HM- and Tai-Kadai (TK)-speaking groups, large genetic divergence of the HM-speaking Hmong but not IuMien from the other Thai groups, and genetic heterogeneity within the ST- and AA-speaking groups, reflecting different population interactions and admixtures. In addition to establishing genetic relationships within and among these populations, our finding, which provides a more complete picture of the forensic microsatellite database of the multiple Thai highland dwellers, would not only serve to expand and strengthen forensic investigation in Thailand, but would also benefit its neighboring countries of Laos and Myanmar, from which many of the Thai hill tribes originated and where large populations of these ethnic groups still reside.


Assuntos
Povo Asiático/etnologia , Povo Asiático/genética , Etnicidade/genética , Genótipo , Repetições de Microssatélites , Feminino , Humanos , Masculino , Tailândia/etnologia
13.
Mol Biol Evol ; 38(8): 3459-3477, 2021 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-33905512

RESUMO

Thailand and Laos, located in the center of Mainland Southeast Asia (MSEA), harbor diverse ethnolinguistic groups encompassing all five language families of MSEA: Tai-Kadai (TK), Austroasiatic (AA), Sino-Tibetan (ST), Hmong-Mien (HM), and Austronesian (AN). Previous genetic studies of Thai/Lao populations have focused almost exclusively on uniparental markers and there is a paucity of genome-wide studies. We therefore generated genome-wide SNP data for 33 ethnolinguistic groups, belonging to the five MSEA language families from Thailand and Laos, and analyzed these together with data from modern Asian populations and SEA ancient samples. Overall, we find genetic structure according to language family, albeit with heterogeneity in the AA-, HM-, and ST-speaking groups, and in the hill tribes, that reflects both population interactions and genetic drift. For the TK speaking groups, we find localized genetic structure that is driven by different levels of interaction with other groups in the same geographic region. Several Thai groups exhibit admixture from South Asia, which we date to ∼600-1000 years ago, corresponding to a time of intensive international trade networks that had a major cultural impact on Thailand. An AN group from Southern Thailand shows both South Asian admixture as well as overall affinities with AA-speaking groups in the region, suggesting an impact of cultural diffusion. Overall, we provide the first detailed insights into the genetic profiles of Thai/Lao ethnolinguistic groups, which should be helpful for reconstructing human genetic history in MSEA and selecting populations for participation in ongoing whole genome sequence and biomedical studies.


Assuntos
Povo Asiático/genética , Genoma Humano , Idioma , Alelos , Povo Asiático/etnologia , Humanos , Laos , Polimorfismo de Nucleotídeo Único , Tailândia
14.
Sci Rep ; 11(1): 2956, 2021 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-33536585

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme disorders. Prevalence and variant distribution of G6PD deficiency can vary in different regions and among differing ethnic groups. To reveal the G6PD frequency and molecular characterization among the Lue ethnic group of northern Thailand, blood samples of 296 unrelated individuals collecting from 6 Lue villages were analyzed. The observed G6PD enzyme activity ranged from 0.11 to 20.60 U/g Hb. Overall, 13.51% (40/296) of the individuals were identified as having G6PD deficiency status. The prevalence in males was 14.28% (20/140), while that of females was 12.82% (20/156). The most common G6PD variants in the Lue were the Kaiping 1388G > A (5.40%) and Canton 1376G > T (6.42%) types. Observed prevalence and variant types of the G6PD gene in the Lue population are similar to that of the Tai-Kadai speaking ethnic groups in southern China, which is consistent with their historically close line of ancestry. However, the founder effect that occurred during the Lue's transboundary migration from China to Thailand showed its impact upon different patterns of G6PD distribution among each Lue village.


Assuntos
Etnicidade/genética , Glucosefosfato Desidrogenase/genética , Adulto , Etnicidade/estatística & dados numéricos , Feminino , Deficiência de Glucosefosfato Desidrogenase/genética , Voluntários Saudáveis , Humanos , Masculino , Mutação , Polimorfismo de Nucleotídeo Único , Prevalência , Fatores de Risco , Fatores Sexuais , Tailândia/epidemiologia
15.
Int J Legal Med ; 135(2): 445-448, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32281021

RESUMO

Central Thailand is home to diverse populations with the central Thai constituting the major group, while the Mon, who migrated from southern Myanmar, are sparsely distributed within the region. A total of 338 individuals of eight central Thai (246 samples) and three Mon populations (92 samples) were newly genotyped. When combined with our previously published Mon data, this provides a total of 139 Mon samples. We found genetic similarity between the central Thai and Mon and weak sub-structuring among Thais from central, northern, and northeastern Thailand. The forensic parameter results show high discrimination values which are appropriate for forensic personal identification and paternity testing in both the central Thai and Mon; the probabilities of excluding paternity are 0.999999112 and 0.999999031, respectively, and the combined discrimination power is 0.9999999999999999999999 in both groups. This regional allelic frequency on forensic microsatellites may serve as a useful reference for further forensic investigations in both Thailand and Myanmar.


Assuntos
Povo Asiático/genética , Etnicidade/genética , Frequência do Gene , Genética Populacional , Genótipo , Humanos , Análise de Escalonamento Multidimensional , Tailândia/etnologia
16.
J Hum Genet ; 66(2): 193-203, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32884076

RESUMO

Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients from seven unrelated families affected with Harboyan Syndrome with mean follow-up of 12.0 ± 0.9 years were thoroughly investigated for the ocular, hearing, and kidney function abnormalities and the outcome of penetrating keratoplasty (PK). Mutation analysis of SLC4A11 was performed. All patients presented with bilateral cloudy corneas since birth. Sensorineural hearing loss was detected in all patients. Seven patients (11 eyes) underwent PK with the median age at surgery of 10.1 years (7.1-22.9). The overall corneal graft survival rate after primary PK was 72.7% (8/11 eyes). The mean graft survival time was 94.6 months (95% CI 83.1-126.0). All patients had unremarkable kidney function. The c.2264G>A (p.Arg755Gln) mutation in SCL4A11 was detected in most patients (87.5%). All unrelated Karen tribe patients had p.Arg755Gln mutation, suggestive of founder effect. We found the allele frequency of this variant in the Karen population to be 0.01. The c.2263C>T (p.Arg755Trp) mutation was found in one patient with mild phenotype and the novel truncating protein mutation c.2127delG (p.Gly710fsx*25) in SCL4A11 was identified in two Thai sisters. Visual outcome and graft survival after PK were satisfactory. Our study shows that all studied patients with SLC4A11 mutations had CHED and sensorineural hearing loss, and SLC4A11 mutations were not related to the onset and severity of hearing loss or outcome of keratoplasty.


Assuntos
Proteínas de Transporte de Ânions/genética , Antiporters/genética , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/patologia , Transplante de Córnea/métodos , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Mutação , Fenótipo , Adolescente , Adulto , Proteínas de Transporte de Ânions/química , Antiporters/química , Criança , Pré-Escolar , Distrofias Hereditárias da Córnea/cirurgia , Feminino , Efeito Fundador , Perda Auditiva Neurossensorial/cirurgia , Humanos , Lactente , Masculino , Linhagem , Conformação Proteica , Adulto Jovem
17.
Eur J Hum Genet ; 28(11): 1563-1579, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32690935

RESUMO

The Hmong-Mien (HM) and Sino-Tibetan (ST) speaking groups are known as hill tribes in Thailand; they were the subject of the first studies to show an impact of patrilocality vs. matrilocality on patterns of mitochondrial (mt) DNA vs. male-specific portion of the Y chromosome (MSY) variation. However, HM and ST groups have not been studied in as much detail as other Thai groups; here we report and analyze 234 partial MSY sequences (∼2.3 mB) and 416 complete mtDNA sequences from 14 populations that, when combined with our previous published data, provides the largest dataset yet for the hill tribes. We find a striking difference between Hmong and IuMien (Mien-speaking) groups: the Hmong are genetically different from both the IuMien and all other Thai groups, whereas the IuMien are genetically more similar to other linguistic groups than to the Hmong. In general, we find less of an impact of patrilocality vs. matrilocality on patterns of mtDNA vs. MSY variation than previous studies. However, there is a dramatic difference in the frequency of MSY and mtDNA lineages of Northeast Asian (NEA) origin vs. Southeast Asian (SEA) origin in HM vs. ST groups: HM groups have high frequencies of NEA MSY lineages but lower frequencies of NEA mtDNA lineages, while ST groups show the opposite. A potential explanation is that the ancestors of Thai HM groups were patrilocal, while the ancestors of Thai ST groups were matrilocal. Overall, these results attest to the impact of cultural practices on patterns of mtDNA vs. MSY variation.


Assuntos
Características Culturais , Etnicidade/genética , Padrões de Herança , Polimorfismo Genético , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Evolução Molecular , Feminino , Frequência do Gene , Humanos , Masculino , Linhagem , Tailândia
18.
Mol Genet Genomics ; 295(3): 579-589, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31932897

RESUMO

We have determined the distribution of Y-chromosomal haplotypes and haplogroups in the Yong population, one of the largest and well-known ethnic groups that began migrating southward from China to Thailand centuries ago. Their unique mass migration pattern provided great opportunities for researchers to study the genetic links of the transboundary migration movements among the peoples of China, Myanmar and Thailand. We analysed relevant male-specific markers, such as Y-STRs and Y-SNPs, and the distribution of 23 Y-STRs of 111 Yong individuals and 116 nearby ethnic groups including the Shan, Northern Thai, Lawa, Lua, Skaw, Pwo and Padong groups. We found that the general haplogroup distribution values were similar among different populations; however, the haplogroups O1b-M268 and O2-M112 constituted the vast majority of these values. In contrast with previous maternal lineage studies, the paternal lineage of the Yong did not relate to the Xishuangbanna Dai people, who represent their historically documented ancestors. However, they did display a close genetic affinity to other prehistoric Tai-Kadai speaking groups in China such as the Zhuang and Bouyei. Low degrees of genetic admixture within the populations who belonged to the Austroasiatic and Sino-Tibetan linguistic families were observed in the gene pool of the Yong populations. Resettlement in northern Thailand in the early part of the nineteenth century AD, by way of mass migration trend, was able to preserve the Yong's ancestral genetic background in terms of the way they had previously lived in China and Myanmar. Our study has revealed similar genetic structures among ethnic populations in northern Thailand and southern China, and has identified and emphasized an ancient Tai-Kadai patrilineal ancestry line in the Yong ethnic group.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Etnicidade/genética , Variação Genética , Genética Populacional , Haplótipos , Herança Paterna , Migração Humana , Humanos , Masculino , Tailândia
19.
PeerJ ; 7: e6958, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31179177

RESUMO

Restoring isolated patches of forest ecosystems in degraded landscapes could potentially lead to genetic loss and inbreeding. Therefore, this study determined the occurrence of genetic diversity among the tree species Castanopsis tribuloides, C. calathiformis, and Lithocarpus polystachyus all of which were proven previously to be effective native tree species in the restoration of upland evergreen forests in northern Thailand when using the seed sample collection method. We tested our hypothesis as to whether the genetic diversity of a plant population that had been planted from the seeds of 4-6 adult trees would be lower and whether incidences of fixation index (Fis) would be higher among the second generation seedlings of these three Fagaceae species in isolated forest restoration trial plots. Microsatellite primers were selected from the entire genome sequence of C. tribuloides and the genetic sequences of C. tribuloides, L. polystachyus, and C. calathiformis were analyzed. Our results indicated a high degree of genetic diversity (He) in C. tribuloides (0.736) and C. calathiformis (0.481); however, a low level of genetic diversity was observed in L. polystachyus (0.281) within the restored forest. The fixation index for the second generation of L. polystachyus and C. calathiformis in the restored forest showed evidence of inbreeding. These results imply the efficiency of the seed sample collection method and verify that it does not reduce the level of genetic diversity in C. tribuloides and C. calathiformis. However, it may result in incidences of an inbreeding phenomena, suggesting the need to increase the number of adult trees used at the seed collection stage.

20.
Mol Biol Evol ; 36(7): 1490-1506, 2019 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-30980085

RESUMO

The human demographic history of Mainland Southeast Asia (MSEA) has not been well studied; in particular, there have been very few sequence-based studies of variation in the male-specific portions of the Y chromosome (MSY). Here, we report new MSY sequences of ∼2.3 mB from 914 males and combine these with previous data for a total of 928 MSY sequences belonging to 59 populations from Thailand and Laos who speak languages belonging to three major Mainland Southeast Asia families: Austroasiatic, Tai-Kadai, and Sino-Tibetan. Among the 92 MSY haplogroups, two main MSY lineages (O1b1a1a* [O-M95*] and O2a* [O-M324*]) contribute substantially to the paternal genetic makeup of Thailand and Laos. We also analyze complete mitochondrial DNA genome sequences published previously from the same groups and find contrasting pattern of male and female genetic variation and demographic expansions, especially for the hill tribes, Mon, and some major Thai groups. In particular, we detect an effect of postmarital residence pattern on genetic diversity in patrilocal versus matrilocal groups. Additionally, both male and female demographic expansions were observed during the early Mesolithic (∼10 ka), with two later major male-specific expansions during the Neolithic period (∼4-5 ka) and the Bronze/Iron Age (∼2.0-2.5 ka). These two later expansions are characteristic of the modern Austroasiatic and Tai-Kadai groups, respectively, consistent with recent ancient DNA studies. We simulate MSY data based on three demographic models (continuous migration, demic diffusion, and cultural diffusion) of major Thai groups and find different results from mitochondrial DNA simulations, supporting contrasting male and female genetic histories.


Assuntos
Cromossomos Humanos Y/genética , Características da Família , Genoma Mitocondrial , Demografia , Feminino , Variação Genética , Migração Humana , Humanos , Idioma , Laos , Masculino , Tailândia
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