揭示印度南部土著部落 Koraga 中各种遗传疾病和综合征的倾向

IF 2.1 4区 生物学 Q2 BIOLOGY Journal of Biosciences Pub Date : 2024-06-22 DOI:10.1007/s12038-024-00458-3
Swathy M Krishna, Suneetha M Prabhu, Ranajit Das
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引用次数: 0

摘要

科拉加人是印度政府认定的特别弱势部落群体(PVTG),来自卡纳塔克邦和喀拉拉邦沿海地区。他们正经历着严重的社会经济和健康问题,人口迅速减少。科拉加人独特的遗传构成一直由内婚习俗维持。我们的目的是找出可能与科拉加人易患遗传性和多因素疾病有关的遗传因素。我们利用在 Infinium Global Screening Array-24 v3.0 BeadChip 平台上对 29 个 Koraga 人进行基因分型的基因组数据,并进行了各种群体遗传分析,包括亲缘关系、世系认同(IBD)和同源性分析(RoH)。Koraga 参与者之间的单倍型共享程度很高,这可能表明最近发生过创始者事件。我们发现了与该农业部落的几种遗传疾病、较高的婴儿死亡率、神经系统疾病、耳聋和较低的生育率相关的基因变异和基因。我们的研究是首次对科拉加部落进行全基因组研究,确定了与各种遗传疾病相关的遗传因素。我们的研究结果可为公共医疗服务提供者提供重要的遗传信息,有助于加强医疗和保健服务,提高科拉加人的生活质量。
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Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India

Koragas, recognized as a particularly vulnerable tribal group (PVTG) by the Government of India, are from coastal Karnataka and Kerala. They are experiencing severe socioeconomic and health-related issues and rapid depopulation. The unique genetic makeup of Koragas has been maintained by the practice of endogamy. We aimed to identify genetic factors potentially associated with the predisposition of Koragas towards genetic and multifactorial disorders. We employed genome-wise data of 29 Koraga individuals genotyped on the Infinium Global Screening Array-24 v3.0 BeadChip platform and performed various population genetic analyses including kinship, identity by descent (IBD), and runs of homozygosity (RoH). A high degree of haplotype sharing among the Koraga participants may be indicative of a recent founder event. We identified genetic variants and genes associated with several genetic disorders, higher infant mortality rate, neurological disorders, deafness, and lower fertility rate of this agrarian tribe. Ours is the first genome-wide study on the Koraga tribe that identified genetic factors associated with various genetic disorders. Our findings can provide public healthcare providers with essential genetic information that can be useful in augmenting medical and healthcare services and improving the quality of life of Koragas.

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来源期刊
Journal of Biosciences
Journal of Biosciences 生物-生物学
CiteScore
5.80
自引率
0.00%
发文量
83
审稿时长
3 months
期刊介绍: The Journal of Biosciences is a quarterly journal published by the Indian Academy of Sciences, Bangalore. It covers all areas of Biology and is the premier journal in the country within its scope. It is indexed in Current Contents and other standard Biological and Medical databases. The Journal of Biosciences began in 1934 as the Proceedings of the Indian Academy of Sciences (Section B). This continued until 1978 when it was split into three parts : Proceedings-Animal Sciences, Proceedings-Plant Sciences and Proceedings-Experimental Biology. Proceedings-Experimental Biology was renamed Journal of Biosciences in 1979; and in 1991, Proceedings-Animal Sciences and Proceedings-Plant Sciences merged with it.
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