• 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

相似文献

1
A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians.美洲印第安人中罕见电泳变体的频率与酶缺乏变体之间的“不均衡”。
Am J Hum Genet. 1984 May;36(3):655-62.
2
Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations.美洲印第安人群体中的罕见变异、私有多态性和基因座杂合性。
Am J Hum Genet. 1978 Sep;30(5):465-90.
3
A revised indirect estimate of mutation rates in Amerindians.美洲印第安人突变率的修正间接估计值。
Am J Hum Genet. 1986 May;38(5):649-66.
4
The Multinational Andean Genetic and Health Program. IX. Gene frequencies and rare variants of 20 serum proteins and erythrocyte enzymes in the Aymara of Chile.安第斯多国遗传与健康项目。IX. 智利艾马拉人群中20种血清蛋白和红细胞酶的基因频率及罕见变异体
Am J Hum Genet. 1980 Jan;32(1):92-102.
5
"Private" genetic variants and the frequency of mutation among South American Indians.南美印第安人中的“私有”基因变异及突变频率。
Proc Natl Acad Sci U S A. 1973 Dec;70(12):3311-5. doi: 10.1073/pnas.70.12.3311.
6
Two-dimensional gel studies of genetic variation in the plasma proteins of Amerindians and Japanese.美洲印第安人和日本人血浆蛋白遗传变异的二维凝胶研究。
Hum Genet. 1985;70(3):222-30. doi: 10.1007/BF00273446.
7
Frequency of thermostability variants: estimation of total "rare" variant frequency in human populations.热稳定性变异体的频率:人类群体中总“罕见”变异体频率的估计
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5729-33. doi: 10.1073/pnas.78.9.5729.
8
Founder effect and number of private polymorphisms observed in Amerindian tribes.奠基者效应与美洲印第安部落中观察到的私有多态性数量
Proc Natl Acad Sci U S A. 1978 Apr;75(4):1904-8. doi: 10.1073/pnas.75.4.1904.
9
Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a "private polymorphism' of esterase A.马库希和瓦皮沙纳印第安人的遗传学研究。一、酯酶A的罕见遗传变异和“私有多态性”
Hum Genet. 1977 Apr 7;36(1):81-107. doi: 10.1007/BF00390440.
10
Electrophoretic variants in three Amerindian tribes: the Baniwa, Kanamari, and Central Pano of western Brazil.巴西西部三个美洲印第安部落中的电泳变异体:巴尼瓦人、卡纳马里人以及中部帕诺人。
Am J Phys Anthropol. 1979 Feb;50(2):237-46. doi: 10.1002/ajpa.1330500212.

引用本文的文献

1
Prevalence of pyruvate kinase deficiency: A systematic literature review.丙酮酸激酶缺乏症的患病率:系统文献回顾。
Eur J Haematol. 2020 Aug;105(2):173-184. doi: 10.1111/ejh.13424. Epub 2020 Jun 23.
2
G6PD deficiency in Latin America: systematic review on prevalence and variants.拉丁美洲的葡萄糖-6-磷酸脱氢酶缺乏症:患病率及变异的系统评价
Mem Inst Oswaldo Cruz. 2014 Aug;109(5):553-68. doi: 10.1590/0074-0276140123. Epub 2014 Aug 19.
3
A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms.人类蛋白质中遗传变异量的修订估计:对DNA多态性分布的影响
Am J Hum Genet. 1984 Sep;36(5):1135-48.
4
Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.人类基因组中的功能性半合子:来自十二个红细胞酶基因座的直接估计
Hum Genet. 1987 Nov;77(3):241-5. doi: 10.1007/BF00284477.
5
A revised indirect estimate of mutation rates in Amerindians.美洲印第安人突变率的修正间接估计值。
Am J Hum Genet. 1986 May;38(5):649-66.

本文引用的文献

1
Estimation of expected number of rare alleles of a locus and calculation of mutation rate.估计一个基因座稀有等位基因的预期数量并计算突变率。
Proc Natl Acad Sci U S A. 1978 Oct;75(10):5094-8. doi: 10.1073/pnas.75.10.5094.
2
Frequency of private electrophoretic variants and indirect estimates of mutation rate in Papua New Guinea.巴布亚新几内亚私人电泳变异的频率及突变率的间接估计
Am J Hum Genet. 1981 Jan;33(1):112-22.
3
Genetic studies on the Ticuna, an enigmatic tribe of Central Amazonas.对提库纳人(亚马孙中部一个神秘部落)的基因研究。
Ann Hum Genet. 1980 Jul;44(1):37-54. doi: 10.1111/j.1469-1809.1980.tb00944.x.
4
Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants.新生儿中磷酸丙糖异构酶缺乏症携带者的频率升高。
Pediatr Res. 1982 Nov;16(11):960-3. doi: 10.1203/00006450-198211000-00012.
5
ACP1GUA-1--a low-activity variant of human erythrocyte acid phosphatase: association with increased glutathione reductase activity.ACP1GUA - 1——人类红细胞酸性磷酸酶的一种低活性变体:与谷胱甘肽还原酶活性增加相关
Am J Hum Genet. 1982 May;34(3):425-33.
6
An enzymatically inactive variant of human lactate dehydrogenase-LDHBGUA-1. Study of subunit interaction.人乳酸脱氢酶-LDHBGUA-1的一种无酶活性变体。亚基相互作用的研究。
Biochim Biophys Acta. 1982 Mar 18;702(1):90-8. doi: 10.1016/0167-4838(82)90030-9.
7
Frequency of enzyme deficiency variants in erythrocytes of newborn infants.新生儿红细胞中酶缺乏变体的频率。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5046-50. doi: 10.1073/pnas.78.8.5046.
8
Is there a difference among human populations in the rate with which mutation produces electrophoretic variants?不同人群中突变产生电泳变异体的速率是否存在差异?
Proc Natl Acad Sci U S A. 1981 May;78(5):3108-12. doi: 10.1073/pnas.78.5.3108.
9
Rate of spontaneous mutation at human loci encoding protein structure.编码蛋白质结构的人类基因座的自发突变率。
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6037-41. doi: 10.1073/pnas.77.10.6037.
10
Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report.探寻原子弹爆炸幸存者子女中影响蛋白质结构的突变:初步报告。
Proc Natl Acad Sci U S A. 1980 Jul;77(7):4221-5. doi: 10.1073/pnas.77.7.4221.

美洲印第安人中罕见电泳变体的频率与酶缺乏变体之间的“不均衡”。

A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians.

作者信息

Mohrenweiser H W, Neel J V

出版信息

Am J Hum Genet. 1984 May;36(3):655-62.

PMID:6731440
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684447/
Abstract

Our previous studies have revealed a higher frequency of nonpolymorphic electrophoretic variants in blood samples from Amerindians than in similar samples from Caucasians and Japanese. Our present study finds, by contrast, that the frequency of deficiency variants of 11 erythrocyte enzymes, sampled in nine Amerindian tribes of Central and South America, is essentially the same (1.5/1,000 determinations) as in Caucasians or Japanese. Possible explanations of the elevated frequency of mobility variants in the tropical-zone/ unacculturated populations include: higher mutation rates resulting in both electrophoretic and activity variants in Amerindians but increased selection against deficiency variants in the Amerindians, or comparable mutation rates in both populations coupled with a greater probability of a mobility variant attaining a relatively high frequency among the Amerindians.

摘要

我们之前的研究表明,美洲印第安人血液样本中非多态性电泳变体的出现频率高于高加索人和日本人的类似样本。相比之下,我们目前的研究发现,在中美洲和南美洲的九个美洲印第安部落中采集的11种红细胞酶缺乏变体的频率,与高加索人或日本人基本相同(每1000次检测中有1.5例)。热带地区/未受文化影响人群中迁移率变体频率升高的可能解释包括:美洲印第安人较高的突变率导致电泳和活性变体都出现,但美洲印第安人对缺乏变体的选择增加;或者两个群体的突变率相当,但迁移率变体在美洲印第安人中达到相对高频率的可能性更大。