1022-7954/01/3711- $25.00 © 2001
Russian Journal of Genetics, Vol. 37, No. 11, 2001, pp. 1312–1322. Translated from Genetika, Vol. 37, No. 11, 2001, pp. 1559–1570.
Original Russian Text Copyright © 2001 by Zinchenko (Mamedova), Elchinova, Gavrilina, Ginter.
In our previous study , we analyzed the diversity
of autosomal dominant (AD) diseases in some popula-
tions of Russia that we had studied for many years
before. We distinguished “frequent” and “rare” AD dis-
eases and found an accumulation of AD diseases that
was not directly related to their mean prevalence rates
in the population studied. In other words, some of rare
as well as relatively frequent diseases exhibited accu-
In this study, we analyzed the diversity of autosomal
recessive (AR) diseases in the same populations, the
total size of which was more than 1.5 million people.
We also attempted to ﬁnd a territorial accumulation of
the AR diseases and compare it with that of the AD dis-
eases. Thus, the study was focussed on the similarities
and differences in the behavior of AD and AR diseases
(and AD and AR genes) in populations of Russia.
The population accumulation of AR diseases is even
better known than accumulation of AD diseases. Accu-
mulation of AR diseases has been found in many popu-
lations, including almost all population that display
accumulation of AD diseases [2–8]. Many researchers
believe that genetic drift and, in the Near East, the high
frequency of consanguineous marriages (and, hence,
inbreeding) are the most common causes of ethnic
accumulation of AR diseases. However, the critical
quantitative characteristics of genetic drift at which it
will lead to accumulation of AR diseases or a decrease
in the population frequencies of their genes remain
MATERIALS AND METHODS
The main material of this study comprised the
results of medical genetic survey of the populations of
six Russian regions: the Kirov, Kostroma, and Bryansk
oblasts; Adygea Republic; Krasnodar krai; and Marii El
Republic. These results were published earlier [9–22].
Table 1 shows the sizes of the populations studied.
The methods of ascertainment of AR diseases were
the same throughout the period of the study. Diagnos-
tics was usually performed by the same specialists. We
always used the same methods for selecting the families
with AR diseases. The complex segregation analysis was
performed for the entire sample of families with healthy
parents and sporadic cases were identiﬁed. We do not
describe here the details of data collection and processing,
because they were reported earlier .
To detect territorial accumulation of AR diseases in
individual populations, we used the
according to Zhivotovsky .
Analysis of Diversity of Autosomal Recessive Diseases
in Populations of Russia
R. A. Zinchenko (Mamedova), G. I. Elchinova, S. G. Gavrilina, and E. K. Ginter
Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478 Russia;
Received April 12, 2001
—The diversity of autosomal recessive (AR) diseases was studied in six Russian regions: the Kirov,
Kostroma, and Bryansk oblasts; Adygea Republic; Krasnodar krai, and Marii El Republic (in the latter region,
the Mari and Russian ethnic groups were studied separately). In total, more than 1.5 million people were stud-
ied. The spectrum of the AR diseases included 101 nosological forms; the total number of the affected was 942.
For all diseases, the prevalence rate in the region where they were found and the mean prevalence rate in the
total population studied were calculated. Only seven AR diseases had prevalence rates of 1 : 50 000 or higher;
however, this group contained about 50% of the patients. About half of the AR diseases (66) had an extremely
low prevalence rate (1 : 877 483). Eleven diseases exhibit local accumulation. Accumulation of some or other
diseases was only observed in four out of seven populations studied (Marii El, Adygea, and the Kirov and Bry-
ansk oblasts). To determine the cause of the local accumulation of some diseases in populations, correlation
analysis of the dependence of accumulation of hereditary diseases on the genetic structure of the populations
studied was performed. The accumulation coefﬁcients for AR and autosomal dominant (AD) diseases and the
mean values of random inbreeding (
) in individual districts were calculated for all populations studied. The
coefﬁcients of the Spearman rank correlation between the accumulation coefﬁcient and random inbreeding (
were 0.68 and 0.86 for the AD and AR diseases, respectively. The correlation between the accumulation of AD
and AR diseases was 0.86. The relationships found indicate that the diversity of AD and AR diseases, as well
as the genetic load, distinctly depended on the population genetic structure and were largely determined by