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STRs中不同类型的结构变异:人源FES/FPS、人源VWA和人源D21S11。

Different types of structural variation in STRs: HumFES/FPS, HumVWA and HumD21S11.

作者信息

Möller A, Meyer E, Brinkmann B

机构信息

Institute of Legal Medicine, Westfälische Wilhelms-Universität, Germany.

出版信息

Int J Legal Med. 1994;106(6):319-23. doi: 10.1007/BF01224779.

Abstract

Alleles of the STR systems HumFES/FPS, HumVWA and HumD21S11 were sequenced and analyzed. Sequence data revealed 3 different systems concerning the complexity of their sequence structure. HumFES/FPS belongs to the STR polymorphism with a simple repeat structure. Only 2 subtypes were found with a base substitution in the 5'-flanking region and no variation in the repeat region. In the STR system HumVWA the sequence structure of the repeat region is more complex, because 2 tetranucleotide units TCTA and TCTG were present. Additionally allele 14 revealed a completely different sequence structure leading to a different electrophoretic mobility. The repeat region of HumD21S11 is compound in structure. The possibility of variation at 3 positions leads to the occurrence of microheterogeneities in fragments of apparent length. In the upper allele range alleles arise with an additional incomplete TA-repeat.

摘要

对STR系统HumFES/FPS、HumVWA和HumD21S11的等位基因进行了测序和分析。序列数据揭示了3种不同的系统,涉及其序列结构的复杂性。HumFES/FPS属于具有简单重复结构的STR多态性。仅发现2个亚型,其5'-侧翼区域存在碱基替换,而重复区域无变异。在STR系统HumVWA中,重复区域的序列结构更为复杂,因为存在2个四核苷酸单元TCTA和TCTG。此外,等位基因14显示出完全不同的序列结构,导致不同的电泳迁移率。HumD21S11的重复区域结构复杂。3个位置发生变异的可能性导致出现表观长度片段的微异质性。在较高等位基因范围内,等位基因出现额外的不完全TA重复。

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