P275The connexin 40 gene is associated with hereditary sick sinus syndrome

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Abstract

Objective

to study the frequency of alleles and genotypes of the gene of connexin 40 (C × 40) in patients with inherited sick sinus syndrome, their relatives I, II and III degree kinship and control group.

Materials and methods

This study was prospective. From the database of the Therapy Department № 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky were selected 29 families with primary, hereditary SSS. Among the probands were 20 women and 9 men, mean age was 58 ± 0,15 years. Among the relatives I, II and III degree were 65 males and 68 females, mean age 39 ± 0,13 years. All probands and their relatives I, II, III degree was held clinical-instrumental study: clinical examination, ECG, bicycle ergometry, Holter ECG monitoring, atropine- test, electrophysiological study (transesophageal stimulation of the left atrium before and after pharmacological autonomic blockade), echocardioscopy. Molecular- genetic study of patients with SSS and their relatives I, II and III degree was conducted in the laboratory of Medical Genetics, Institute of Medicine SB RAMS of Novosibirsk city.

Results and discussion

71 patients with SSS, 44- their healthy relatives I, II and III degree relatives and 197- control group was genotiped on polymorphism 44G > A of Cx40 gene.

Results and discussion

According to the results of allele-specific polymerase chain reaction 3 kinds of ADRA2B genotypes were revealed in patients with SSS, their healthy relatives and control group: II- homozygous wild, ID- heterozygous, DD- homozygous mutant.

Results and discussion

It is established significant predominance of the heterozygous genotype 44G > A in patients with SSS (45,07 ± 5,9%) compared with control group (29,44 ± 3,2%).

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