CAJ | 학술논문

背景:在此前发表的文章中,我们提出了一种新的基于短串联重复序列(Short Tandem Repeats,STR)的染色体三体性疾病的诊断策略.当应用这种策略来检测特定染色体拷贝数时,需要从人类基因组众多的STR中选择适宜的染色体特异性STR基因座构建一个诊断系统,根据系统中的STR基因座是否检测到三种不同的等位基因产物来判断个体是否为三体患者.目的:本研究拟进一步提出并验证对单个STR基因座及由多个STR基因座构成的诊断系统的评估方法,旨在帮助选择适宜的STR基因座构建一个高效能的诊断系统.方法:我们提出一个新的参数--三等位基因栓出率,并推导出该参数的计算公式,用于定量评估一个STR基因座在这种诊断策略中的效能.在此基础上,推导出另一个数学公式,计算一个非整倍体诊断系统能够在一个三体性患者?哌检测到三个不同等位基因的概率,根据这个概率的大小来衡量系统诊断效能的高低.最后,我们将所提出的两个公式用于评估我们在先前研究中构建的一个21三体的诊断系统.结果:这个21三体诊断系统由9个21号染色体特异性STR基因座构成.根据我们所提出的两个公式,这些STR基因座的三等位基因检出率在0.203-0.638之间,该系统在21三体患者能够检测到三个不同等位基因的概率大于0.95.结论:我们所提出并验证的公式可以对单个STR基因座和系统的诊断效能进行定量评估,帮助选择适宜的STR遗传标记,并确定一个高效能诊断系统所需的STR基因座的数量,从而为这种诊断策略的广泛应用提供基础.
배경:재차전발표적문장중,아문제출료일충신적기우단천련중복서렬(Short Tandem Repeats,STR)적염색체삼체성질병적진단책략.당응용저충책략래검측특정염색체고패수시,수요종인류기인조음다적STR중선택괄의적염색체특이성STR기인좌구건일개진단계통,근거계통중적STR기인좌시부검측도삼충불동적등위기인산물래판단개체시부위삼체환자.목적:본연구의진일보제출병험증대단개STR기인좌급유다개STR기인좌구성적진단계통적평고방법,지재방조선택괄의적STR기인좌구건일개고효능적진단계통.방법:아문제출일개신적삼수--삼등위기인전출솔,병추도출해삼수적계산공식,용우정량평고일개STR기인좌재저충진단책략중적효능.재차기출상,추도출령일개수학공식,계산일개비정배체진단계통능구재일개삼체성환자?고 검측도삼개불동등위기인적개솔,근거저개개솔적대소래형량계통진단효능적고저.최후,아문장소제출적량개공식용우평고아문재선전연구중구건적일개21삼체적진단계통.결과:저개21삼체진단계통유9개21호염색체특이성STR기인좌구성.근거아문소제출적량개공식,저사STR기인좌적삼등위기인검출솔재0.203-0.638지간,해계통재21삼체환자능구검측도삼개불동등위기인적개솔대우0.95.결론:아문소제출병험증적공식가이대단개STR기인좌화계통적진단효능진행정량평고,방조선택괄의적STR유전표기,병학정일개고효능진단계통소수적STR기인좌적수량,종이위저충진단책략적엄범응용제공기출.
Background:In the newly published article,we presented a novel STR-based diagnostic strategy for trisomy.When applying the strategy to the detection of the copy number of the selected chromosome,it is necessary at first to construct a multi-marker diagnostic system for trisomy by selecting the optimal chromosome-specific STR markers from numerous STR polymorphisms in human genome.Objective:Attempting to provide a reliable method for selecting optimal STR markers to construct a diagnositic system of high efficiency,in this study,we further described the quantitative evaluation of single STR marker and multimarker system during the marker selection.Methods:We deduced the formulae of three-allele detection rae(TDR)and the probability that three different alleles are observed in a diagnostic system.(P),by which we can quantitatively evaluate efficacy of a STR marker and cumulative efficacy of a multi-marker diagnostic system.Furthermore,we applied them to a multi-marker diagnostic system for trisomy 21 which was constructed in the previous study.Results:The TDR values of nine STR markers in our diagnostic system for trisomy 21 ranged from 0.203 to 0.638.The probability that three different alleles are observed in the system is above 0.95.Conclusion:The numerical values obtained from the formulae can provide a basis for the selection of optimal STR markers and the determination of the number of STR markers needed in a system with high efficacy.