Hb. Rasmussen et al., SEQUENCING AND DETECTION OF POLYMORPHISMS IN THE 5'-END OF THE HUMAN ENDOGENOUS RETROVIRAL ELEMENT, HRES-1, Disease markers, 13(1), 1996, pp. 1-9
Fragments of the 5' long terminal repeat (LTR) of the human endogenous
retroviral element, HRES-1, were amplified. Single strand conformatio
n analysis of these fragments in combination with sequencing revealed
two polymorphic nucleotides, namely a HindIII and an Eco57I polymorphi
c site. Moreover, a number of differences from the previously publishe
d HRES-1 LTR sequence were detected. The linkage pattern of the two po
lymorphisms 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 dise
ases.