Two Single-Base Polymorphisms in the Human
Tumor Necrosis Factor Locus of Multiple Sclerosis Patients
from the Russian Population: NcoI-RFLP
in the First Intron of the Human Lymphotoxin Gene
Correlates with the Disease

A. D. Alexeenkov^1,2, M. A. Sudomoina^1,2, A. N. Boiko^1,2, T. L. Deomina¹,
E. I. Gusev¹, and O. O. Favorova*^1,2

¹ State Medical University, Ministry of Public Health of Russian Federation, Moscow, 117437 Russia;
² Institute of Experimental Cardiology, Cardiology Research Center,
Ministry of Public Health of Russian Federation, Moscow, 121552 Russia
* E-mail: favorov@imb.ac.ru

Received August 19, 1998

Abstract—Frequency of alleles and genotypes of two polymorphous sites in the locus of tumor necrosis factors
(TNF) was determined in 50 multiple sclerosis (MS) patients and 50 volunteers. Analysis of polymorphism in
position –308 of the TNF gene promoter region was carried out using allele-specific PCR. No reliable differ-
ence was found in the TNF–308 allele distribution between patients and control group. Analysis of NcoI-
RFLP in the first intron of lymphotoxin (alias TNF) was done by the PCR-RFLP technique. The reliable
increase in the frequency of the rarer allele n2 was found in MS patients. No linkage disequilibrium of the n2
allele with some MS markers, including DR2(15), was found. A possible role of the G-252 A point mutation
in the NcoI restriction site of the first intron of the lymphotoxin gene in the genetic predisposition to MS is
discussed.

Key words: man, multiple sclerosis, blood, DNA, gene typing, main histocompatibility complex, gene of tumor
necrosis factor , lymphotoxin , population genetics

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