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。

微衛(wèi)星標記中的無效等位基因

Null alleles in microsatellite markers

[1] [2] [3] [4] [5] [6] [7]

Yafeng Wen , Kentaro Uchiyama , Wenjun Han , Saneyoshi Ueno , Weidong Xie , Gangbiao Xu , Yoshihiko Tsumura （ 1 College of Forestry, Central South University of

[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

文章摘要：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。

Abstr：Microsatellite markers are widely used in genetic analysis, but the common occurrence of null alleles, is an unfortunate drawback, and one which has not been paid enough attention. In this review, we confirm 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 certain 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 invisibility, 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 attention and demand caution in future studies. Through a variety of methods, such as locus selection, null allele data adjustment, and the design of new primers, we can escape the adverse effects of null alleles and achieve greater accur

文章關鍵詞：

Keyword：:null alleles microsatellite markers allele frequency Hardy-Weinberg equilibrium

課題項目：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）; 日本JSPS特別研究員資助項目（11F00787）

作者信息：會員可見

  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。