• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

美国西南部 Athabaskans 人群中的常染色体隐性疾病:人类学、医学和科学方面。

Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.

机构信息

Department of Pediatrics, University of Arizona, Tucson, AZ, USA.

出版信息

J Appl Genet. 2021 Sep;62(3):445-453. doi: 10.1007/s13353-021-00630-7. Epub 2021 Apr 21.

DOI:10.1007/s13353-021-00630-7
PMID:33880741
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8057858/
Abstract

The peopling of the Americas by Native Americans occurred in 4 waves of which the last was Nadene language speakers of whom Athabaskans are the largest group. As the Europeans were entering the Southwestern states of the USA, Athabaskan hunting-gathering tribes were migrating South from Canada along the Rocky Mountains and undergoing potential bottlenecks reflected in autosomal recessive diseases shared by Apaches and Navajos. About 300 years ago, the Navajo developing a sedentary culture learned from Pueblo Indians while the Apache remained hunter-gathers. Although most of the tribe was rounded up and forced to relocate to Bosque Redondo, the adult breeding population was large enough to prevent a genetic bottleneck. However, some Navajo underwent further population bottlenecks while hiding from the brutal US Army action (under Kit Carson's guidance). This led to an increased frequency of other autosomal recessive diseases. Recent advances in population genetics, pathophysiology of the diseases, and social/ethical issues concerning their study are reviewed.

摘要

美洲原住民的迁徙经历了 4 波,其中最后一波是纳德内语(Nadene language)使用者,而阿萨巴斯卡语族(Athabaskans)是其中最大的群体。当欧洲人进入美国西南部各州时,阿萨巴斯卡狩猎采集部落正从加拿大沿落基山脉向南迁移,并经历了由阿帕切语(Apache)和纳瓦霍语(Navajo)共享的常染色体隐性疾病反映的潜在瓶颈。大约 300 年前,发展出定居文化的纳瓦霍人从普韦布洛印第安人那里学习,而阿帕切人仍然是狩猎采集者。尽管该部落的大部分人被围捕并被迫迁移到红河谷(Bosque Redondo),但成年繁殖人口足够多,足以防止遗传瓶颈。然而,一些纳瓦霍人在躲避残酷的美国军队行动(在基特·卡森的指导下)时经历了进一步的人口瓶颈。这导致其他常染色体隐性疾病的频率增加。本文综述了人口遗传学、疾病的病理生理学以及研究这些疾病的社会/伦理问题的最新进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44c8/8057858/c24c770a9767/13353_2021_630_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44c8/8057858/c24c770a9767/13353_2021_630_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44c8/8057858/c24c770a9767/13353_2021_630_Fig1_HTML.jpg

相似文献

1
Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.美国西南部 Athabaskans 人群中的常染色体隐性疾病:人类学、医学和科学方面。
J Appl Genet. 2021 Sep;62(3):445-453. doi: 10.1007/s13353-021-00630-7. Epub 2021 Apr 21.
2
Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future.美国西南部 Athabaskans 人群中的常染色体隐性遗传病:最新进展及其对未来的影响。
Am J Med Genet A. 2009 Nov;149A(11):2602-11. doi: 10.1002/ajmg.a.33052.
3
Southwestern Athabaskan (Navajo and Apache) genetic diseases.西南部阿萨巴斯卡语系(纳瓦霍语和阿帕切语)相关的遗传疾病。
Genet Med. 1999 May-Jun;1(4):151-7. doi: 10.1097/00125817-199905000-00007.
4
HVI and HVII mitochondrial DNA data in Apaches and Navajos.阿帕奇族和纳瓦霍族的HVI和HVII线粒体DNA数据。
Int J Legal Med. 2002 Aug;116(4):212-5. doi: 10.1007/s00414-001-0283-6. Epub 2002 May 28.
5
Comments on genetic data relating to Athapaskan migrations: implications of the Malhi et al. study for the Southwestern Apache and Navajo.关于与阿萨巴斯卡人迁徙相关的基因数据的评论:马尔希等人的研究对西南阿帕奇人和纳瓦霍人的影响。
Am J Phys Anthropol. 2009 Jul;139(3):281-3. doi: 10.1002/ajpa.21062.
6
The Origin of Amerindians and the Peopling of the Americas According to HLA Genes: Admixture with Asian and Pacific People.根据 HLA 基因探讨美洲印第安人的起源和美洲人群的形成:与亚洲和太平洋人群的混合。
Curr Genomics. 2010 Apr;11(2):103-14. doi: 10.2174/138920210790886862.
7
Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century.纳瓦霍人中的异染性脑白质营养不良:19世纪美国-印第安战争的遗留影响。
Am J Med Genet. 2001 Jul 1;101(3):203-8. doi: 10.1002/ajmg.1362.
8
Population genetics, history, and health patterns in native americans.美洲原住民的群体遗传学、历史与健康模式。
Annu Rev Genomics Hum Genet. 2004;5:295-315. doi: 10.1146/annurev.genom.5.061903.175920.
9
HLA-B alleles of the Navajo: no evidence for rapid evolution in the Nadene.纳瓦霍人的HLA - B等位基因:没有证据表明纳丁人存在快速进化。
Tissue Antigens. 1996 Feb;47(2):143-6. doi: 10.1111/j.1399-0039.1996.tb02528.x.
10
Navajo, Pueblo, and Sioux population data on the Loci HLA-DQA1, LDLR, GYPA, HBGG, D7S8, Gc, and D1S80.纳瓦霍族、普韦布洛族和苏族人群在HLA - DQA1、低密度脂蛋白受体(LDLR)、血型糖蛋白A(GYPA)、血红蛋白γ链(HBGG)、D7S8、维生素D结合蛋白(Gc)和D1S80基因座上的数据。
J Forensic Sci. 1996 Jan;41(1):47-51.

引用本文的文献

1
Familial Glucocorticoid Deficiency in Twins: A Novel Mutation and Impact on Social Determinants of Health Outcome.双胞胎中的家族性糖皮质激素缺乏症:一种新的突变及其对健康结局社会决定因素的影响
JCEM Case Rep. 2024 Dec 13;3(1):luae224. doi: 10.1210/jcemcr/luae224. eCollection 2025 Jan.

本文引用的文献

1
Fostering Responsible Research on Ancient DNA.促进古 DNA 负责任研究。
Am J Hum Genet. 2020 Aug 6;107(2):183-195. doi: 10.1016/j.ajhg.2020.06.017.
2
Weaving the Strands of Life (): History of Genetic Research Involving Navajo People.《生命的编织():涉及纳瓦霍人的遗传研究史》。
Hum Biol. 2020 Jul 9;91(3):189-208. doi: 10.13110/humanbiology.91.3.04.
3
Entwined Processes: Rescripting Consent and Strengthening Governance in Genomics Research with Indigenous Communities.相互交织的过程:重新制定基因组学研究相关同意书并加强与原住民社区的治理
J Law Med Ethics. 2020 Mar;48(1):218-220. doi: 10.1177/1073110520917020.
4
Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters.编辑肌球蛋白 VB 基因以创建具有微绒毛包涵体和钠离子转运体改变的微小绒毛包涵病猪模型。
Gastroenterology. 2020 Jun;158(8):2236-2249.e9. doi: 10.1053/j.gastro.2020.02.034. Epub 2020 Feb 26.
5
Palaeo-Eskimo genetic ancestry and the peopling of Chukotka and North America.古爱斯基摩人遗传渊源与楚科奇半岛和北美洲的人类迁徙
Nature. 2019 Jun;570(7760):236-240. doi: 10.1038/s41586-019-1251-y. Epub 2019 Jun 5.
6
The population history of northeastern Siberia since the Pleistocene.东北西伯利亚自更新世以来的人口历史。
Nature. 2019 Jun;570(7760):182-188. doi: 10.1038/s41586-019-1279-z. Epub 2019 Jun 5.
7
Loss of MYO5B Leads to Reductions in Na Absorption With Maintenance of CFTR-Dependent Cl Secretion in Enterocytes.肌球蛋白 VB 缺失导致肠细胞中钠吸收减少,而 CFTR 依赖的氯离子分泌得以维持。
Gastroenterology. 2018 Dec;155(6):1883-1897.e10. doi: 10.1053/j.gastro.2018.08.025. Epub 2018 Aug 23.
8
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.通过对三名患病兄弟姐妹进行10年随访评估先天性角化不良伴中性粒细胞减少症的家族内临床变异性。
Eur J Med Genet. 2019 Jan;62(1):73-76. doi: 10.1016/j.ejmg.2018.05.007. Epub 2018 May 24.
9
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.MPV17 相关的线粒体 DNA 维持缺陷:新病例及临床、生化和分子方面的综述。
Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13.
10
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.口腔-面-指综合征15年的研究:从1个到16个致病基因
J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13.