The role of molecular genetic changes in the structure of the CDH1 gene in the development of gastric cancer in patients from the Republic of Bashkortostan

A. Nurgalieva, L. F. Gallyamova, R. Valiev, Sabina G. Petrova, M. Dzhaubermezov, D. Prokofieva, Natalia Ekomasova, Radmir R. Rakhimov, D. Sakaeva, S. Khusnutdinov, E. Khusnutdinova
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Abstract

Gastric cancer (GC) is one of the most serious diseases, occupying a leading position among the causes of death from malignant neoplasms in the world. The Republic of Bashkortostan (RB) also has high rates of morbidity and mortality due to malignant neoplasms of the stomach. One of the main genes that determine a high risk of predisposition to this pathology is the CDH1 gene. The aim of the study: Search for changes in the nucleotide sequence in the CDH1 gene in patients with gastric cancer from the Republic of Bashkortostan. Materials and methods: The material for the study was DNA samples of gastric cancer patients and healthy donors living in the RB. Genomic DNA was isolated from peripheral blood lymphocytes by phenol-chloroform extraction. Amplifica-tion was performed using specific primers flanking the studied exon. The study of exons for the presence of changes in the nucleotide sequence was carried out using the SSCP and HRM methods. To verify molecular genetic changes, the Sanger sequencing method was used. Results: The genetic variant rs35741240 (c.1680G>C, p.Thr560=) was found in the 11th exon of the CDH1 gene. Four patients (1.33%) were found to be heterozygous C allele carriers among patients; the incidence of GC genotype among healthy individuals was 0.67% (2 patients). A rare polymorphic locus rs33969373 (c.1896C>T, p.His571=) was also found in the 12th exon of the CDH1 gene. The vari-ant was also detected in the heterozygous state, the frequency of the CT genotype in the group of patients was 1.00% (3 patients), among the control – 0.33% (1 patients). In exon 14 of the CDH1 gene, a synonymous polymorphic locus rs33964119 (c.2253C>T, p.Asn751=) was found. It was shown that this variant in the heterozygous state occurs in 24 patients (8.00%), and among healthy individuals the frequency of the CT genotype was 5.33% (16 patients). Pairwise comparison of the frequencies of alleles and genotypes of the identified loci between the groups of patients and con-trols revealed no statistically significant differences (p>0.05). Conclusion: As a result of the study, we found previously known changes in the nucleotide sequence in exons 11, 12 and 14 of the CDH1 gene (rs35741240, rs33969373 and rs33964119). None of the identified changes is patho-genic.
CDH1基因结构的分子遗传变化在巴什科尔托斯坦共和国患者胃癌发展中的作用
胃癌是最严重的疾病之一,在世界恶性肿瘤死亡原因中占据领先地位。巴什科尔托斯坦共和国(RB)因胃恶性肿瘤的发病率和死亡率也很高。CDH1基因是决定患这种疾病的高风险的主要基因之一。该研究的目的:在巴什科尔托斯坦共和国胃癌患者中寻找CDH1基因核苷酸序列的变化。材料和方法:本研究的材料为胃癌患者和生活在RB的健康供者的DNA样本。采用苯酚-氯仿萃取法从外周血淋巴细胞中分离基因组DNA。利用所研究的外显子两侧的特定引物进行扩增。使用SSCP和HRM方法对核苷酸序列变化的外显子进行研究。为了验证分子遗传变化,采用Sanger测序方法。结果:在CDH1基因第11外显子上发现rs35741240 (C . 1680g >C, p.Thr560=)遗传变异。患者中4例(1.33%)为杂合型C等位基因携带者;健康人群中GC基因型的发生率为0.67%(2例)。在CDH1基因的第12外显子上也发现了一个罕见的多态性位点rs33969373 (c.1896C>T, p.His571=)。在杂合子状态下也检出该变异,患者组中CT基因型频率为1.00%(3例),对照组中为0.33%(1例)。在CDH1基因的第14外显子中,发现了一个同质多态性位点rs33964119 (c.2253C>T, p.Asn751=)。结果表明,该基因型在24例(8.00%)患者中出现,在健康人群中出现频率为5.33%(16例)。两组患者与对照组等位基因频率及鉴定位点基因型两两比较,差异无统计学意义(p>0.05)。结论:通过研究,我们发现CDH1基因外显子11,12和14 (rs35741240, rs33969373和rs33964119)的核苷酸序列发生了先前已知的变化。这些变化都不具有致病性。
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