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North African genetic variation of cytochrome and sulfotransferase genes 细胞色素和硫转移酶基因的北非遗传变异
Pub Date : 2015-01-01 DOI: 10.4314/IJMA.V1I8.1
María Gaibar, M. Arqués, A. Fernández-Santander, A. Novillo, Alicia Romero-Lorca, Qi Li, M. E. Esteban
María Gaibar, Meritxell Arqués, Ana Fernández-Santander, Apolonia Novillo, Alicia Romero-Lorca, Qi wei Li, M. Esther Esteban 1 Department of Basic Medical Sciences, European University of Madrid, Madrid, Spain. 2 Section of Anthropology, Faculty of Biology, University of Barcelona, Barcelona, Spain. *Corresponding Author: Maria Esther Esteban Torné, Section of Anthropology, Faculty of Biology, University of Barcelona, Barcelona, Spain.; E-mail: mesteban@ub.edu
María Gaibar, Meritxell arqu, Ana Fernández-Santander, Apolonia Novillo, Alicia Romero-Lorca, Qi wei Li, M. Esther Esteban 1欧洲马德里大学基础医学部,西班牙马德里。2巴塞罗那大学生物学院,人类学系,西班牙巴塞罗那。*通讯作者:Maria Esther Esteban torn,西班牙巴塞罗那大学生物学院人类学研究室;电子邮件:mesteban@ub.edu
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引用次数: 0
Origin of Ancient Canary Islanders Guanches: presence of Atlantic/Iberian HLA and Y chromosome genes and Ancient Iberian language 古加那利群岛人的起源:大西洋/伊比利亚人HLA和Y染色体基因和古伊比利亚语的存在
Pub Date : 2015-01-01 DOI: 10.4314/IJMA.V1I8.4
A. Arnaiz-Villena, E. Muñiz, C. Campos, E. Gomez-Casado, Sandra Tomasi, N. Martinez-Quiles, M. Martín-Villa, José Palacio-Gruber
First CanaryIslands(Spain) Inhabitants (“Guanches”) origin has been much debated. Lately, it has come popular the simplistic theory that they came from North Africa. In the present paper, we conclude that not only North Africans but also Iberian/Atlantic Europeans (and possibly others) must have been first Canarians. Debate whether North Africans or Iberians were the first “Guanches” is artificial since Iberian Peninsula-North African genes flow in ancient times was abundant and Iberians share a great part of genetic profile with North Africans. New genetic (HLA) and linguistic data shown in the present paper, is supported by diverse early anthropological and “Guanches” mummies characters which confirm existence of at least two “Guanches” types and a correct interpretation of R1b Y chromosome high frequency in Atlantic Europe (Ireland, British Isles, North Spain,Basque Coast and Portugal), and also, is present in Canary Islands (13.3%). Present paper HLA genes partial data and presence of abundant old Iberian language scripts (which show an easy translation proposal by using Basque) in Fuerteventura and also in Lanzarote and El Hierro Islands suggest that a present day dogma of a hypothetically North African single origin should be changed. Both Atlantic/Europeans and North Africans define origin of Canary Islands first inhabitants. Keywords: Basque, Canary Islands, El Hierro, Fuerteventura, genes, genetic markers, Guanche, HLA, Iberian, Language, Lanzarote, Latin Inscriptions, R1b, R1b1b, Rock scripts, Usko-Mediterranean, Y chromosome.
第一加那利群岛(西班牙)居民(“Guanches”)的起源一直有很多争论。最近,一种简单的理论流行起来,认为他们来自北非。在本文中,我们得出结论,不仅北非人,而且伊比利亚/大西洋的欧洲人(可能还有其他人)一定是最早的加那利人。关于最早的“关西人”是北非人还是伊比利亚人的争论是人为的,因为伊比利亚半岛和北非在古代的基因流动是丰富的,伊比利亚人与北非人有很大的基因图谱共享。新的遗传(HLA)和语言学数据显示在本论文中,由不同的早期人类学和“瓜切斯”木乃伊的特征,证实存在至少两种“瓜切斯”类型和正确的解释R1b Y染色体高频在大西洋欧洲(爱尔兰,不列颠群岛,北西班牙,巴斯克海岸和葡萄牙),也存在于加那利群岛(13.3%)。目前在富埃特文图拉岛、兰萨罗特岛和耶罗岛发现的HLA基因部分数据和大量古老伊比利亚语文字(用巴斯克语翻译很容易)表明,目前关于北非单一起源的假设应该改变。大西洋/欧洲人和北非人定义了加那利群岛第一批居民的起源。关键词:巴斯克语、加那利群岛语、耶罗语、富埃特文图拉语、基因、遗传标记、冠奇语、HLA、伊比利亚语、语言、兰萨罗特语、拉丁铭文、R1b、R1b1b、岩石文字、乌斯科-地中海语、Y染色体。
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引用次数: 22
Language as genes of culture and biodiversity conservation: The case of “Zaysite” language in southern region of Ethiopia 语言作为文化基因与生物多样性保护——以埃塞俄比亚南部地区的“扎伊斯特”语为例
Pub Date : 2013-05-16 DOI: 10.4314/IJMA.V1I6.1
A. Unasho
Background and aim : Ethiopia is a country of a remarkablei¦ mosaici¦ people each with its own distinct languages, and cultural norms without which progress and development are impossible and development that does not pay attention to culture and environment cannot produce fruits. Zeyse ethnic group is one of the minority ethnic groups whose language and its role to conserve biodiversity is not studied well. The aim of this study was to assess the status of Zeyse ethnic group language and its role in biodiversity conservation. Subjects : During the study, the status of the language and its role to conserve biodiversity were assessed by, taking a sample of 230 individuals from the population that includes age groups ranged from 10 to 105 years, who were native i§Zaysitei¨ speakers... Results and conclusion : The result indicated positive attitude of the respondents towards their language, the link between linguistically encoded indigenous environmental knowledge and biodiversity  conservation, existence of some obsolete words of Zaysite language, and progressive decrease of the mean (ƒ{X ) numbers of correctly interpreted vocabularies from elders (ƒ{X =63.85) to teenagers (ƒ{X =37.23). These findings prove noticeable gradual decline in the use of Zaysite language. Losses of vocabularies, as social genes of culture and some words becoming obsolete have not only negative impacts on the proficiency and communicative functions of the language, but also on the biodiversity conservation because life in a particular human environment is dependent on peoplei¦s ability to express the environment using words (cultural genes) of the language. Therefore, language has a direct positive effect on the biodiversity conservation and hence, Zaysite and other languages need protection, preservation and documentation in order to conserve biodiversity. Key words : biodiversity, elders, endangerment, language preservation, teenagers, Zaysite, cultural genes
背景与目的:埃塞俄比亚是一个有着独特文化的国家,每个人都有自己独特的语言和文化规范,没有这些,进步和发展是不可能的,不重视文化和环境的发展是不可能产生成果的。泽泽族是少数民族之一,其语言及其对生物多样性保护的作用研究较少。本研究的目的是评估泽泽族语言的地位及其在生物多样性保护中的作用。研究对象:在研究过程中,通过从人口中抽取230个样本来评估该语言的地位及其在保护生物多样性方面的作用,这些样本包括年龄从10到105岁不等的群体,他们是母语为Zaysitei的人。结果与结论:调查结果显示,被调查者对自己的语言持积极态度,语言编码的土著环境知识与生物多样性保护之间存在联系,扎伊斯特语中存在一些过时的词汇,正确翻译词汇的平均数(f {X)从老年人(f {X =63.85)到青少年(f {X =37.23)逐渐减少。这些发现证明了扎伊斯特语的使用明显逐渐减少。作为文化的社会基因,词汇的流失和一些词汇的过时不仅会对语言的熟练程度和交际功能产生负面影响,而且还会对生物多样性的保护产生负面影响,因为人类在特定环境中的生活依赖于人们使用语言的词汇(文化基因)来表达环境的能力。因此,语言对生物多样性保护具有直接的积极作用,因此,为了保护生物多样性,Zaysite和其他语言需要保护,保存和记录。关键词:生物多样性,老年人,濒危,语言保护,青少年,Zaysite,文化基因
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引用次数: 2
Tiwanaku ( Titikaka Lake, Bolivia ) and Alberite Dolmen (Southern Spain) ritual “ears” Tiwanaku (Titikaka湖,玻利维亚)和Alberite Dolmen(西班牙南部)仪式“耳朵”
Pub Date : 2013-05-16 DOI: 10.4314/IJMA.V1I6.3
A. Arnaiz-Villena, Javier Alonso-Rubio, V. Ruíz-del-Valle
There are indications of transatlantic cultural contacts in Prehistoric Times: Solutrean artifacts (about 20,000 years ago) are found in United States archeological sites and also cave wall inscriptions which may be a early alphabet and are identical all over the World are abundant in southern France and northern Spain. In the present paper, close similarities of a Tiwanaku (Titikaka Lake, Bolivia) “ritual ear” and another “ritual ears” observed in Alberite Dolmen (southern Spain, 7,000 years ago) are described. Functionality of these stone carved “ears” is related to amplifying voice and communication between shaman/priest and prayers. Thus, a religious role is put forward for these “ears”, but not excluding other functionalities. In addition, Basque language is considered as a remaining of the initial old Iberian-Tartessian language; Celtic Welsh is now being translated by using Iberian-Tartessian. Iberians identification with Atlantic Celts (British Isles and French Brittany) may be feasible. Also, words of an ancient European language (Basque) and Andean languages are similar in phonology and semantics. Our findings further strengthen the existence of transatlantic cultural contacts, which may have occurred in one direction or being also bidirectional during a wide range of prehistoric time. Key words : Alberite, Aymara, Basques, Bolivia, British, Celts, Dolmen, Iberians, Quechua, Spanish, Tiwanaku
在史前时代就有跨大西洋文化交流的迹象:在美国的考古遗址中发现了梭罗时代的文物(大约2万年前),在法国南部和西班牙北部也有大量的洞穴墙壁铭文,这些铭文可能是一种早期的字母,在世界各地都是相同的。本文描述了Tiwanaku (Titikaka Lake,玻利维亚)的“仪式耳朵”与Alberite Dolmen(西班牙南部,7000年前)观察到的另一个“仪式耳朵”的相似之处。这些石头雕刻的“耳朵”的功能与放大萨满/牧师和祈祷者之间的声音和交流有关。因此,为这些“耳朵”提出了宗教作用,但不排除其他功能。此外,巴斯克语被认为是原始的古老伊比利亚-塔尔泰语的残余;凯尔特威尔士语现在用伊比利亚语翻译。伊比利亚人与大西洋凯尔特人(不列颠群岛和法属布列塔尼)的认同可能是可行的。此外,古代欧洲语言(巴斯克语)和安第斯语言的词汇在音韵和语义上相似。我们的发现进一步加强了跨大西洋文化交流的存在,这种交流可能是单向的,也可能是在史前时期的一个大范围内双向的。关键词:阿尔贝利人、艾马拉人、巴斯克人、玻利维亚人、英国人、凯尔特人、多尔曼人、伊比利亚人、盖丘亚人、西班牙人、蒂瓦纳库人
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引用次数: 21
The Nature of Identity in “ The Grapes of Wrath ”: A postmodern Study 《愤怒的葡萄》中的身份本质:后现代研究
Pub Date : 2013-04-01 DOI: 10.4314/IJMA.V1I6.2
N. Hooti, Farzaneh Arjmand
Background : In modernism framework, identity is viewed as a fixed, essential and centered essence inside the mind of human and all his behaviors and characteristics are originated from this mental essence, while the post-structuralists see identity as multiple, contradictory, and changing over time. Aim : The purpose of the current study is to analyze the fragmented nature of the characters of “The Grapes of Wrath” on postmodern bedrock, where the nature of identity of all the characters is treated in singularity. The study further displays that as a text may have contradictory meanings, hence the characters of the text cannot be imprisoned within the domain of a single identity, but at each flow of the unrepeated time segment, the nature of identity keeps on changing. Method : The researchers aim at scrutinizing the selected novel through a postmodern outlook, where it opens texts up to alternative readings, i.e. to look for neglected and marginalized elements in texts especially the aporias. Results : The study wants to bring to picture that a text never achieves closure, but it is an open field of any possible learning with unpredicted interpretations. It shows that by challenging the tradition of the Metaphysics and resisting the imposed logos of life, all the biased and politicized stumbling blocks may be removed from the routine path of the natural growth of the characters of the novel, and the same thing may be applicable to the life itself. Keywords : Identity, Post-structuralism framework, multiple meanings, metaphysics of presence, Social Identity Theory.
背景:在现代主义框架下,身份被视为人的心灵中一个固定的、本质的、集中的本质,人的一切行为和特征都源于这一精神本质。后结构主义者则认为身份是多元的、矛盾的、随时间而变化的。目的:本研究的目的是分析《愤怒的葡萄》中人物在后现代主义基础上的碎片化本质,在后现代主义基础上,所有人物的身份本质都是以奇点的方式处理的。研究进一步表明,由于文本可能具有相互矛盾的意义,因此文本的特征不能被禁锢在单一身份的范围内,而是在不重复的时间片段的每一个流动中,身份的性质都在不断变化。方法:研究人员的目的是通过后现代的观点来审视选定的小说,在那里它打开了文本的替代阅读,即寻找文本中被忽视和边缘化的元素,特别是aporias。结果:本研究希望揭示文本永远不会结束,但它是一个开放的领域,任何可能的学习都有不可预测的解释。它表明,通过挑战形而上学的传统,抵制强加的生命逻各斯,一切偏见和政治化的绊脚石都可以从小说人物自然成长的常规道路上移除,同样的事情也可以适用于生活本身。关键词:认同,后结构主义框架,多重意义,在场形而上学,社会认同理论
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引用次数: 2
Themes in Spirit Possession in Ugandan Christianity 乌干达基督教中灵魂附身的主题
Pub Date : 2013-04-01 DOI: 10.4314/IJMA.V1I6.5
R. James
Spirit possession and the belief in witches and their curses is common in Uganda. This paper discerns a number of common themes that run through many of these experiences. In particular, sex as a motif for deviance and evil is noted as a common feature of many of the possession stories and all contact with spirits is seen as fundamentally dangerous. There is also some commonality in the content of some stories recounted by interviewees. This paper compares the observations and interviews conducted in Uganda and their common themes with Eni’s book Saved from the Powers of Darkness, with Ugandan cultural traditions and Ugandan experiences of terrorism to probe the origins of their conceptualisations. Through these comparisons it is possible to note Nigerian influence in at least some Ugandan expressions of the experience of spirit possession. However, Ugandan, rather than Nigerian, traditions and experiences are probably more important overall. Besides the traditions that are noted as influences on the way in which spirit possessions are expressed and experienced, the possibility for the breaking of witches’ curses being a cohesive of community activity is noted, as is a connection between the casting out of spirits and the resolve (or at least desire) to live a better, morally reformed, life in accordance with what is being preached in a church. This paper notes evidence that supports Horton’s suggestion that spirit possession is the theorisation of the world in order to understand and affect it. Key words : Spirit Possession; Witchcraft; Deliverance; Pentecostalism; Uganda
在乌干达,灵魂附身和对女巫及其诅咒的信仰很普遍。本文发现了许多贯穿这些经历的共同主题。特别是,性作为离经叛道和邪恶的主题,被认为是许多附身故事的共同特征,所有与灵魂的接触都被视为根本危险的。受访者讲述的故事内容也有一定的共性。本文将在乌干达进行的观察和访谈及其共同主题与埃尼的书《从黑暗的力量中拯救出来》进行比较,并与乌干达的文化传统和乌干达的恐怖主义经历进行比较,以探索其概念化的起源。通过这些比较,我们可以注意到尼日利亚至少在一些乌干达对灵魂附身体验的表达中受到了影响。然而,总的来说,乌干达的传统和经验可能比尼日利亚更重要。除了被认为对灵魂拥有的表达和体验方式有影响的传统之外,人们还注意到,打破女巫诅咒的可能性是一种社区活动的凝聚力,正如驱逐灵魂与决心(或至少是愿望)之间的联系一样,为了过上更好的生活,道德改革,按照教堂里所宣扬的生活。本文指出了支持霍顿的建议的证据,即精神占有是世界的理论化,以便理解和影响它。关键词:附魂;巫术;解脱;五旬节派;乌干达
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引用次数: 0
A theoretical ovary position in link with the global anatomical structure of each human female body 一种理论的卵巢位置,与每个人类女性身体的整体解剖结构相联系
Pub Date : 2013-01-01 DOI: 10.4314/IJMA.V1I6.4
H. Chaabani
Generally the position of different organs is determined by simple description following the anatomical elements surrounded them and such description could be developed and applied in surgical anatomy. Here, I present for the first time a theoretical three-dimensional ovary position in link with the global anatomical structure of each human female body. I advance the fact that ovaries are placed between two anatomical planes: a first plane of a frontal section touching at the top the internal edge of the manubrium sterni and at the bottom the convexity of the lumbar curvature of the spinal column and a second plane of a frontal section touching the two convexities of cervical and lumbar curvatures of the spinal column. Although during and after the first pregnancy ovaries become really slightly displaced they would keep the proposed three-dimensional position. The degree of accuracy of this theoretical position could be evaluated by using special combined techniques of Magnetic Resonance Imaging (MRI). If results will be positive, this finding would represent a new future view in particular fundamental anatomical studies where we will bring out the harmony between an organ position and the global individual anatomical structure. Key words : theoretical ovary position, three-dimensional position, individual anatomical structure
一般来说,不同器官的位置是根据其周围的解剖元素进行简单描述来确定的,这种描述可以在外科解剖中得到发展和应用。在这里,我首次提出了一个理论的三维卵巢位置与每个人类女性身体的整体解剖结构相联系。我提出卵巢位于两个解剖平面之间的事实:额部的第一个平面在顶部接触胸骨柄的内缘,在底部接触腰椎弯曲的凸面额部的第二个平面接触脊柱的颈椎和腰椎弯曲的两个凸面。虽然在第一次怀孕期间和之后卵巢会有轻微的移位,但它们会保持拟议的三维位置。这个理论位置的准确性可以通过使用特殊的磁共振成像(MRI)组合技术来评估。如果结果是积极的,这一发现将代表一个新的未来观点,特别是在基础解剖学研究中,我们将提出器官位置和整体个体解剖结构之间的和谐。关键词:理论卵巢位置,三维位置,个体解剖结构
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引用次数: 4
Iberian-Tartessian scripts/graffiti in Iruna-Veleia (Basque Country, North Spain): findings in both Iberia and Canary Islands-Africa 伊比利亚-韦莱亚(西班牙北部巴斯克地区)的伊比利亚-塔尔泰西亚文字/涂鸦:在非洲伊比利亚和加那利群岛的发现
Pub Date : 2012-05-23 DOI: 10.4314/IJMA.V1I5.2
A. Arnaiz-Villena, D. Rey
760 officially recognized scripts on ceramics from Iruna-Veleia excavated by the archaeology firm Lurmen S.L. (approximately between years 2002-2008)have been analyzed. A number of these ceramics contains scripts which may be assimilated to Iberian/Tartessian writings. This number may be underestimated since more studies need to be done in already available and new found ceramics. This is the second time that Iberian writing is found by us in an unexpected location together with the Iberian-Guanche inscriptions of Lanzarote and Fuerteventura (Canary Islands). On the other hand, naviform scripting, usually associated to Iberian rock or stone engraving may have also been found in Veleia. Strict separation, other than in time and space stratification, between Iberian and (South) Tartessian culture and script is doubted. Keywords: Iruna-Veleia, Teverga (Asturias), Iberian, Tartessian, Basque, Vasco-iberismo, epigraphy, scripts, graffiti, “iberico”, “tartesico”,“grafitos”, “escritura”,”Guanche “
考古公司Lurmen S.L.发掘的伊鲁纳-韦莱亚(Iruna-Veleia)陶器上的760个官方认可的文字(大约在2002年至2008年之间)进行了分析。许多这些陶瓷包含可能被伊比利亚/塔尔泰斯文字同化的文字。这个数字可能被低估了,因为需要对现有的和新发现的陶瓷进行更多的研究。这是我们第二次在一个意想不到的地方发现伊比利亚文字,同时发现的还有兰萨罗特岛和富埃特文图拉岛(加那利群岛)的伊比利亚语-官语铭文。另一方面,通常与伊比利亚岩石或石刻有关的naviform脚本也可能在Veleia被发现。除了时间和空间上的分层,伊比利亚和(南)鞑靼文化和文字之间的严格分离是值得怀疑的。关键词:伊鲁纳-韦莱亚、特韦尔加(阿斯图里亚斯)、伊比利亚语、塔特西安语、巴斯克语、瓦斯科-伊比利亚语、铭文、文字、涂鸦、“伊比利亚”、“塔特西安”、“涂鸦”、“escritura”、“Guanche”
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引用次数: 3
Synthetic review on the different anthropological aspects of hemoglobinopathies in Tunisia 突尼斯血红蛋白病不同人类学方面的综合综述
Pub Date : 2012-05-23 DOI: 10.4314/IJMA.V1I5.4
A. Khelil, P. Perrin, G. Lefranc, J. Chibani
Hemoglobinopathies are a group of hereditary hemolytic anemia characterized by qualitative (sickle cell disease) or quantitative (thalassemia) defects in the alpha or beta-globin chain synthesis. Homozygotes or compound heterozygotes for the mutated alpha or beta-globin genes can cause severe anemia at an early age. These pathologies are common in some areas (Mediterranean, Africa, India, and Southeast Asia). Tunisia, by its geographical location, its history and its socio-economic system, is particularly concerned by these pathologies. The frequency and severity of the beta-thalassemia syndrome justify the establishment of prevention programs including screening and genetic counseling especially in regions with relatively high degree of consanguinity. Molecular investigations are conducted to identify the molecular defects involved in β-thalassemia. Determination of the spectrum and distribution of beta globin gene mutations and haplotypes associated gave us the opportunity to develop and improve diagnostic tests and eventually to offer ante-natal diagnosis. In addition, molecular analyses gave us important anthropological information about the origins and the spread of Hemoglobinopathies mutations. Investigations have been conducted to propose the origin and the migration schemes of the most frequent β-thalassemia mutations in Tunisia (codon 39 and IVSI 110): a west-Mediterranean and ancient origin for codon 39 and an east-Mediterranean origin (Anatolia) for IVSI 110 during the Neolithic period. Concerning the βS mutation of the sickle cell anemia, the β-globin cluster restriction enzyme haplotypes and the sequence polymorphism analyses show a multicentric origin for this mutation. Arose about 3,000 years ago, this mutation was very likely introduced in North Africa from sub-Saharan Africa. Key words: Hemoglobinopathies, Genetic counseling, Molecular analyses, Migration schemes, Origins of mutations.
血红蛋白病是一组遗传性溶血性贫血,其特征是α或β -珠蛋白链合成的定性(镰状细胞病)或定量(地中海贫血)缺陷。突变的α珠蛋白或β珠蛋白基因的纯合子或复合杂合子可导致早期严重贫血。这些病症在某些地区(地中海、非洲、印度和东南亚)很常见。突尼斯由于其地理位置、历史和社会经济制度,特别关注这些病态。地中海贫血综合征的频率和严重程度证明了预防方案的建立,包括筛查和遗传咨询,特别是在血缘程度相对较高的地区。进行分子研究以确定β-地中海贫血中涉及的分子缺陷。确定-珠蛋白基因突变和相关单倍型的谱和分布,使我们有机会发展和改进诊断测试,并最终提供产前诊断。此外,分子分析为我们提供了关于血红蛋白病突变起源和传播的重要人类学信息。已经进行了调查,以提出突尼斯最常见的β-地中海贫血突变(密码子39和IVSI 110)的起源和迁移方案:密码子39起源于西地中海和古代,IVSI 110起源于新石器时代的东地中海(安纳托利亚)。关于镰状细胞性贫血的βS突变,β-珠蛋白簇限制性内切酶单倍型和序列多态性分析显示该突变具有多中心起源。大约在3000年前出现,这种突变很可能是从撒哈拉以南非洲引入北非的。关键词:血红蛋白病,遗传咨询,分子分析,迁移方案,突变起源
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引用次数: 1
New contribution on the LRRK2 G2019S mutation associated to Parkinson’s disease: age estimation of a common founder event of old age in Moroccan Berbers 对与帕金森病相关的LRRK2 G2019S突变的新贡献:摩洛哥柏柏尔人老年共同创始事件的年龄估计
Pub Date : 2012-05-23 DOI: 10.4314/IJMA.V1I5.1
G. Lucotte, D. David, N. Change
Background: The LRRK2 G2019S mutation is an important genetic determinant of Parkinson’s disease (PD) across the world that occurs at an elevated frequency in North Africa. Aim: To estimate the date of the G2019S mutation in Berbers. Material and Methods: We determined the LRRK2 haplotypes in twenty-two G2019S carriers, mostly North Africans, and in one hundred twenty-four Arab, Moroccan Berber and Sephardi Jew controls, using seven microsatellite and two SNP genetic markers. Results: A single haplotype was detected, with some variations, in all mutation carriers. Using a maximum–likelihood method, we estimate that Moroccan Berbers with G2019S share a common ancestor who lived ~128 (95% CI 107-180) generations ago. Conclusion: Our conclusion is that the G2019S mutation of the LRRK2 gene originates 3,840 (95% CI 3,210-5,400) years ago in parkinsonian Moroccan Berbers patients. Key words: Parkinson’s disease (PD), Leucine-rich repeat kinase 2 ( LRRK2 ) gene, G2019S mutation, Haplotype, Founding mutation.
背景:LRRK2 G2019S突变是世界范围内帕金森病(PD)的重要遗传决定因素,在北非发生频率升高。目的:估计柏柏尔人G2019S突变的日期。材料和方法:我们使用7个微卫星和2个SNP遗传标记确定了22名G2019S携带者(主要是北非人)和124名阿拉伯人、摩洛哥柏柏尔人和西班牙法迪犹太人的LRRK2单倍型。结果:在所有突变携带者中均检测到单个单倍型,并存在一定的变异。使用最大似然方法,我们估计摩洛哥柏柏尔人与G2019S有共同的祖先,生活在约128代(95% CI 107-180)以前。结论:我们的结论是,LRRK2基因的G2019S突变起源于3840年前(95% CI 3210 - 5400)的帕金森摩洛哥柏柏尔患者。关键词:帕金森病,富亮氨酸重复激酶2 (LRRK2)基因,G2019S突变,单倍型,创始突变
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引用次数: 3
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International Journal of Modern Anthropology
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