首页> 外文期刊>Journal of Molecular Biology >DISPERSION AND INSERTION POLYMORPHISM IN TWO SMALL SUBFAMILIES OF RECENTLY AMPLIFIED HUMAN ALU REPEATS
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DISPERSION AND INSERTION POLYMORPHISM IN TWO SMALL SUBFAMILIES OF RECENTLY AMPLIFIED HUMAN ALU REPEATS

机译:最近增强的人类Alu重复序列的两个小家族中的分散和插入多态性

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摘要

Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes. The smaller subfamily (termed HS-2) is comprised of approximately 5 to 25 members, while the larger (termed Sb2) includes approximately 125 to 600 members. Individual members of these Alu subfamilies share distinguishing sets of diagnostic mutations, are well-conserved relative to each other, and have expanded in the human lineage. At least one member from each subfamily is known to be polymorphic in humans. Three newly characterized HS-2 Alu family members as well as three Sb2 Alu repeats are monomorphic (fixed) in humans. The existence of a number of Alu subfamilies that have amplified in parallel within the human genome provides compelling evidence for the simultaneous activity of multiple dispersed Alu source genes. [References: 43]
机译:检查了两个最近传播的(年轻)Alu亚科的新近分离的成员在灵长类动物基因组中的序列多样性和插入多态性。较小的亚科(称为HS-2)由大约5至25个成员组成,而较大的亚科(称为Sb2)包括大约125至600个成员。这些Alu亚家族的个体成员共享不同的诊断突变集,彼此之间相对保守,并且在人类谱系中得到了扩展。已知每个亚科的至少一个成员在人类中是多态的。三个新鉴定的HS-2 Alu家族成员以及三个Sb2 Alu重复序列在人类中是单态的(固定的)。在人类基因组中并行扩增的许多Alu亚家族的存在为多个分散的Alu来源基因的同时活性提供了令人信服的证据。 [参考:43]

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