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Sequencing and detection of polymorphisms in the 5' end of the human endogenous retroviral element, HRES-1.

作者信息

Rasmussen H B, Christensen K, Clausen J

机构信息

Institute of Life Sciences and Chemistry, Roskilde University, Denmark.

出版信息

Dis Markers. 1996 Aug;13(1):1-9. doi: 10.1155/1996/875653.

DOI:10.1155/1996/875653
PMID:8875113
Abstract

Fragments of the 5' long terminal repeat (LTR) of the human endogenous retroviral element, HRES-1, were amplified. Single strand conformation analysis of these fragments in combination with sequencing revealed two polymorphic nucleotides, namely a HindIII and an Eco571 polymorphic site. Moreover, a number of differences from the previously published HRES-1 LTR sequence were detected. The linkage pattern of the two polymorphisms suggested the existence of three allelic forms of HRES-1. The frequencies of the genotypes and alleles of HRES-1 were determined in 158 individuals. The detection of HRES-1 markers may be useful to study associations between this endogenous retrovirus and various diseases.

摘要

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Lupus-associated endogenous retroviral LTR polymorphism and epigenetic imprinting promote HRES-1/RAB4 expression and mTOR activation.狼疮相关内源性逆转录病毒 LTR 多态性和表观遗传印记促进 HRES-1/RAB4 表达和 mTOR 激活。
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