1022-7954/02/3802- $27.00 © 2002
Russian Journal of Genetics, Vol. 38, No. 2, 2002, pp. 213–215. Translated from Genetika, Vol. 38, No. 2, 2002, pp. 278–280.
Original Russian Text Copyright © 2002 by Ryabov, Kazennova, Bobkov.
During last ﬁve years, several communications
reporting a discovery of hereditary alterations of human
genome determining resistance to human immunodeﬁ-
ciency virus (HIV) and/or the rate of the disease pro-
gression have been published. These genome changes
are usually associated with the genes encoding
chemokines or their receptors, which also serve as sec-
ondary receptors for HIV. These include a point mutation
at position 64 of the CCR2 receptor gene (
causing a valine to isoleucine substitution and a G to A
substitution in the 3'-untranslated region of gene for
stromal-derived factor 1 (SDF1). The product of the lat-
ter gene is a chemokine, which is a ligand for another
receptor, CXCR4. According some authors, both muta-
tions are associated with the delayed disease progres-
sion in HIV-infected individuals [1, 2].
allelic frequencies slightly vary
among representatives of different races. Highest fre-
quency (0.157) is typical to populations of Southeast
Asia . This frequency is slightly lower in the Black
population of South African Republic (0.131)  and in
Kuwaitis (0.119) . The lowest
quencies recorded so far were observed in the popula-
tions of Western Europe—Italians (0.065) , Belgians
(0.074) , and Danes (0.06) —and in the Cauca-
soid population of South African Republic (0.072) .
On the contrary, allelic frequency of the
mutation is considerably different in various ethnic
groups. Maximum frequency (about 0.3) was observed
in the populations of Asia, while the values obtained for
the Europeans and Americans varied from 0.198 to 0.21.
Note that this mutation is virtually absent in the Black
population of South African Republic (0.01). The val-
ues obtained for African Americans was somewhat
higher (0.057), but this result may be explained by the
contribution of Caucasoids [2–4]. The present study
was focused on determination of the
allelic frequencies in the population of
A total of 122 blood donor samples obtained from
unrelated individuals from Moscow were analyzed.
The samples were treated as described earlier .
Lysates were used as templates for polymerase chain
reaction (PCR). The
mutation was typed
using the 5'-GGATTGAACAAGGACGCATTTCCCC
(direct) and 5'-TTGCACATTGCATTCCCAAA-
GACCC (reverse) primers. For detection of the
mutations the 5'-CAGTCAACCTGGGCAAAGCC
(direct) and 5'-AGCTTTGGTCCTGAGAGTCC
(reverse) primers. The primers were purchased from
Litekh, Russia. The PCR products were the fragments
of 380 and 302 bp in size, respectively. The presence of
mutations was determined by digestion of the PCR
products with restriction endonucleases,
I for the
(the mutation carrying fragment contains recog-
nition site for the corresponding enzyme), and
(the mutation carrying fragment lacks endo-
nuclease recognition site) [2, 10]. The results were ana-
lyzed by means of electrophoresis in 2.7% agarose and
5% polyacrylamide (19 : 1) gels, respectively.
The data are presented in table. Allelic frequencies
= 122) and
were 0.1106 (95% conﬁdence interval 0.0714–0.1498)
and 0.2125 (95% conﬁdence interval 0.1608–0.2642).
A comparison of our results with the literature data [2–8]
showed that the allelic frequencies of both mutations
observed in the population of Moscow were somewhat
higher compared to those revealed in Western Europe.
This result can be explained by the rather high propor-
tion of migrants from Asian regions of Russia, probably
Frequencies of the
Associated with Progression of the HIV-1 Disease
in Healthy Individuals from Moscow
G. S. Ryabov, E. V. Kazennova, and A. F. Bobkov
Ivanovsky Institute of Virology, Russian Academy of Medical Sciences, Moscow, 123098 Russia; e-mail: firstname.lastname@example.org
Received June 18, 2001
—The frequencies of two mutations associated with the development of clinical symptoms upon
infection with human immunodeﬁciency virus type 1 (HIV-1) were determined in a cohort of individuals from
Moscow. Allelic frequency of the ﬁrst mutation,
, causing the substitution of valine with isoleucine in
the CCR2 chemokine receptor, was 0.1106 (95% conﬁdence interval, 0.0714–0.1498). The frequency of the
second mutation, the G to A substitution in the 3'-untranslated region of the stromal-derived factor 1 encoding
, was 0.2125 (95% conﬁdential interval, 0.1608–0.2642). Both values were slightly higher than
those obtained earlier for Western European countries. This result can be explained by higher proportion of
migrants from Asian regions, characterized by higher frequencies of these mutations, in the population of Moscow.