1022-7954/02/3803- $27.00 © 2002
Russian Journal of Genetics, Vol. 38, No. 3, 2002, pp. 332–334. Translated from Genetika, Vol. 38, No. 3, 2002, pp. 419–421.
Original Russian Text Copyright © 2002 by Gorbunova, Galeyeva, Khusnutdinova.
The monoamine oxidase (amine: oxygen oxi-
doreductase, deaminating; EC 22.214.171.124; MAO) is the
only enzyme of the mediator metabolism which uses
not one, but a group of neuromediators as substrates.
MAO is the main enzyme of the catecholamine and
serotonin metabolism. It also catalyzes deamination of
histamine after its methylation [1, 2]. MAO is not only
the most important and unique by its wide activity spec-
trum mediator enzyme, but it is also the most sensitive
to any changes in the internal and external environment.
For these reasons, changes of the MAO properties play
an important role in the mechanisms of the response
reactions towards extreme effects.
Monoamine oxidase is an integral surface protein of
mitochondrial membranes represented in all cell types.
Two forms of the enzyme, MAO A and MAO B, differ-
ing by molecular mass, substrate speciﬁcity, and sensi-
tivity to inhibitors are distinguished. It was established
that MAO A and MAO B are encoded by different
genes [3, 4]. In humans the two genes are mapped to the
short arm of the X chromosome, p11.23–11.4, close to
one another [5–7]. The genes span the region of 60 kb
and contain 15 exons. They have identical exon–intron
organization, but different promoters .
The levels of the MAO activity affect neurophysio-
logical and behavioral patterns of humans and animals.
For instance, decrease of the enzyme activity results in
the accumulation of catecholamines and serotonin in
brain, which, in turn, causes autonomous dysfunctions,
epilepsy, and motor hyperactivity .
Our study was focused on comparative analysis of
RV restriction polymorphism at the MAO A
gene in male populations of the Volga–Ural region
belonging to Turkic branch of the Altaic linguistic fam-
ily (Bashkirs, Chuvashes, and Tatars), Finno–Ugric
branch of the Uralic linguistic family (Udmurts, Maris,
Mordovians, and Komis), and Eastern Slavs (Russian
inhabitants of Bashkortostan).
DNA samples were analyzed. A total of 453 DNA
samples obtained from the inhabitants of the Volga–
Ural region, including Russians (60), Tatars (53), Bash-
kirs (61), Maris (54), Mordovians (53), Chuvashes
(54), Udmurts (51) and Komis (67) were examined.
DNA was isolated from peripheral blood cells by
means of phenol– chloroform extraction . Ampliﬁ-
cation of the MAO A locus was carried out using poly-
merase chain reaction with the following primers:
5'-TTA AAT GGT CTC GGG AAG G-3',
5'-GCC CAA TGA CAC AGC CTT T-3'.
After initial denaturation (3 min at 94
C), 30 cycles
of ampliﬁcation were carried out (1 min at 94 for dena-
turation; 2 min at 57 for primer annealing; and 3 min at
72 for DNA synthesis). Next, the samples were incu-
bated at 72 for 7 min and cooled . For polymorphism
l of the reaction mixture were digested for
4 h at 36 with two units of
RV restriction endonu-
clease. In the course of the reaction, the 488-bp allele
remained intact, while the other one was subjected to
enzymatic hydrolysis with the formation of the two
fragments of 456 and 32 bp in size. Restriction DNA
fragments were separated by electrophoresis in 7% ver-
tical polyacrylamide gel at 250 V and stained with
ethidium bromide. Identiﬁcation of the fragments was
performed in the UV light.
Statistical treatment of the data was performed
test and the R
ware program based on the algorithm described by Roff
and Bentzen .
The results of the analysis of the restriction frag-
ment length polymorphism at the MAO A-encoding
Investigation of Monoamine Oxidase
Gene Restriction Polymorphism in Male Populations
of the Volga–Ural Region
E. V. Gorbunova, A. R. Galeyeva, and E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientiﬁc Center, Russian Academy of Sciences, Ufa, 450054 Bashkortostan, Russia;
Received June 4, 2001; in ﬁnal form, October 2, 2001
—Restriction polymorphism at the monoamine oxidase A (MAO A) gene was typed in eight male
populations of the Volga– Ural region (Bashkirs, Chuvashes, Tatars, Udmurts, Maris, Mordovians, Komis, and
Russians inhabiting the Republic of Bashkortostan). Analysis of the MAO A alleles frequency distribution pat-
terns did not reveal statistically signiﬁcant differences between the Volga–Ural populations examined. The
results obtained suggest genetic homogeneity of the populations described in respect of the polymorphic locus