Non-uniform phenotyping of D12S391 resolved by second generation sequencing
Non-uniform phenotyping of D12S391 resolved by second generation sequencing
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DOI：
10.1016/j.fsigen.2013.09.008
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发表时间：
2014-01-01
影响因子：
3.1
通讯作者：
Morling, N.
中科院分区：
文献类型：
--
作者：
Dalsgaard, S.;Rockenbauer, E.;Morling, N.
在D12 S391位点观察到5个病例工作样本的非均匀表型。用AmpFlSTR（R）NGM SElect（TM）PCR扩增试剂盒对样品进行至少两次分型，并在不同的实验中用GeneMapper（R）ID-X调用不同的等位基因。对电泳图的详细分析表明，这些个体是杂合子，具有两个大小相差一个核苷酸的等位基因。D12 S391是一个复杂的STR，具有可变数目的AGAT和AGAC重复序列。第二代测序结果显示，如果短等位基因中AGAT重复数高于长等位基因，则两个长度相差一个核苷酸的等位基因的分离效果较差。检测到30种不同的等位基因，其中16种以前没有报道过。(C)2013爱思唯尔爱尔兰有限公司版权所有。
Non-uniform phenotyping of five case work samples were observed in the D12S391 locus. The samples were typed at least twice with the AmpFlSTR (R) NGM SElect (TM) PCR Amplification Kit and different alleles were called with GeneMapper (R) ID-X in the different experiments. Detailed analyses of the electropherograms suggested that the individuals were heterozygous with two alleles that differed in size by one nucleotide. This was confirmed by amplifying the samples with the PowerPlex (R) ESX 17 system.D12S391 is a complex STR with variable numbers of AGAT and AGAC repeats. Second generation sequencing revealed that separation of two alleles differing by one nucleotide in length was poor if the number of AGAT repeats in the short allele was higher than in the long allele.A total of 45 individuals with microvariants or off-ladder alleles in D12S391 were sequenced. Thirty different alleles were detected and sixteen of these were not previously reported. (C) 2013 Elsevier Ireland Ltd. All rights reserved.