本文關鍵詞：微衛(wèi)星標記中的無效等位基因，由筆耕文化傳播整理發(fā)布。

生物多樣性 2013, 21 (1): 117–126 Doi: 10.3724/SP.J.1003.2013.10133 Biodiversity Science http: //http://www.wendangwang.com 微衛(wèi)星標記中的無效等位基因

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文亞峰1, 2 Kentaro Uchiyama2 韓文軍1 Saneyoshi Ueno2

謝偉東3 徐剛標1 Yoshihiko Tsumura2

1 (中南林業(yè)科技大學林學院, 長沙 410004) 2 (日本森林綜合研究所, 日本筑波 305-8687)

3 (廣西大學林學院, 南寧 530004)

摘要: 微衛(wèi)星標記以其獨有的優(yōu)點廣泛應用于遺傳學研究, 但無效等位基因(null alleles)的存在與潛在影響是其最大缺陷之一, 在研究工作中并未得到足夠重視。本文在綜述國內(nèi)外相關文獻的基礎上, 明確了微衛(wèi)星無效等位基因的概念與特點, 對其可能的產(chǎn)生原因、頻率估算方法、相關分析軟件及其對群體遺傳學、親本分析等研究結果的影響進行述評, 以期對無效等位基因有較為全面、深入的了解。微衛(wèi)星無效等位基因的產(chǎn)生與SSR側(cè)翼序列的變異(點突變、插入或缺失)及引物結合位點有關, 其與同工酶標記中的無效等位基因有本質(zhì)區(qū)別, 并非基因本身的自然屬性。雖然微衛(wèi)星無效等位基因具有普遍性、復雜性和隱匿性等特點, 但完全可以通過Hardy-Weinberg平衡檢驗、親子代基因型分析和重新設計引物等方法認識、檢測并估算其頻率。無效等位基因會對遺傳學相關研究結果造成顯著影響, 如降低群體遺傳多樣性, 加大群體間遺傳分化; 降低親本分析排除率, 甚至可能造成親本分析結果的錯誤與混亂。今后研究工作中, 我們應對無效等位基因予以足夠重視并謹慎對待, 從標記位點選擇、無效等位基因數(shù)據(jù)調(diào)整及重新設計引物分析等多個方面盡可能減少和避免其影響, 以獲得最真實的分析結果。 關鍵詞: 無效等位基因, 微衛(wèi)星標記, 等位基因頻率, Hardy-Weinberg平衡

Null alleles in microsatellite markers

Yafeng Wen1,2*, Kentaro Uchiyama2, Wenjun Han1, Saneyoshi Ueno2, Weidong Xie3, Gangbiao Xu1, Yoshihiko Tsumura2

1 College of Forestry, Central South University of Forestry and Technology, Changsha 410004, China 2 Forestry and Forest Products Research Institute, Tsukuba 305-8687, Japan 3 College of Forestry, Guangxi University, Nanning 530004, China

Abstract: Microsatellite markers are widely used in genetic analysis, but the common occurrence of null al-leles, is an unfortunate drawback, and one which has not been paid enough attention. In this review, we con-firm the concept of null alleles and their characteristics, detail methods for estimating the frequency of null alleles and discuss potential causes. We also consider the effect of null alleles on genetic studies, such as measurement of population genetic diversity, parentage analysis and assignment tests. The review has a cer-tain reference value for future studies. One main cause of microsatellite null alleles is poor primer annealing due to nucleotide sequence divergence (point mutations or indels) in one or both flanking primers. Microsa-tellite null alleles are not a natural characteristic of a specific gene, and are essentially different from isozyme null alleles. Although microsatellite null alleles have the characteristics of universality, complexity and in-visibility, we can test and estimate their frequency through multiplex approaches, using Hardy-Weinberg equilibrium tests, parent-offspring genotype analysis, and new primer design. Null alleles have significant effects on the results of genetic analysis, potentially decreasing population genetic diversity and increasing genetic differentiation among populations. Moreover, null alleles may decrease the probability of parentage exclusion, even leading to errors or confusion in parentage analysis. Null alleles should be paid more atten-—————————————————— 收稿日期: 2012-06-20; 接受日期: 2012-09-04

基金項目: 國家林業(yè)公益性行業(yè)科研專項(201104033)、湖南省自然科學基金重點項目(10JJ2018)、湖南省教育廳重點項目(09A103)和日本JSPS特別研究員資助項目(11F00787)

通訊作者 Author for correspondence. E-mail: wenyafeng7107@

  本文關鍵詞：微衛(wèi)星標記中的無效等位基因，，由筆耕文化傳播整理發(fā)布。