"Генетика", 2024 г., № 3

Статьи, опубликованные только в Russian J. of Genetics, № 2 – 2024 г.

Comparison of Genetic Diversity and Core Locus Information of Abies yuanbaoshanensis Natural Population and Progeny

J. Tang¹, Y. Yang¹, J. Wei¹, B. Pan¹, J. Yang², T. Ding¹, X. Wei¹

¹ Guangxi Institute of Botany, Chinese Academy of Sciences, 541006, Guangxi, Guangxi Zhuang Autonomous Region, China
² State Key Laboratory of Systematic and Evolutionary Botany, Chinese Academy of Sciences, 100093, Beijing, China
Correspondence to J. Tang or T. Ding

Abies yuanbaoshanensis is an endemic endangered plant species in China. It is a global key protected coniferous tree species with critical academic value for phylogenetic and global climate change studies. Seven SSR primer pairs were used to amplify eight natural population and progeny. The results showed that a total of 29 alleles were amplified. The average N_a, I, H_o, H_e, and F indices of the eight native populations were 3.125, 0.811, 0.413, 0.467, and 0.108, respectively. Compared with the natural population, the number of alleles, Shannon diversity index, and expected heterozygosity of the progeny population were higher than the average of the natural population. However, the number of effective alleles, observed heterozygosity, and inbreeding coefficient were lower than the average of the original population. SSR is usually a dominant marker with good stability and polymorphism in Mendelian inheritance. Priority should be given to LPF and LSP populations, which have high genetic diversity and private alleles. The results of SSR genetic information loci of natural populations and their progeny is helpful to study the genetic relationship between Abies yuanbaoshanensis and Abies from the molecular level, which lays a foundation for the classification of Abies and the construction of the core germplasm of Abies yuanbaoshanensis.

DOI: 10.1134/S1022795424030141
К статье на сайте SpringerLink

Development Immune-Related Prognostic Model and LncRNA-miRNA-mRNA ceRNA Network for Cervical Cancer

H. Xu, J. Zhao, T. Zhang, Y. Gao, C. Shi

Department of Obstetrics and Gynecology, The Affiliated Huai’an No. 1 People’s Hospital of Nanjing Medical University, 223300, Huai’an, Jiangsu, China
Correspondence to C. Shi

Cervical cancer is a serious threat to women’s health. The aim of this study was to provide new insights into the mechanism of cervical cancer by constructing immune-related prognostic model and ceRNA network. The mRNA and circRNA datasets of cervical cancer were downloaded from NCBI GEO database. Wilcox.test was used to screen the differential immune cells between cervical cancer patients and normal participants. WGCNA was performed for identification immune related genes. A circRNA-lncRNA-mRNA network was constructed and the genes in the network were further screened for genes related to prognosis using survival package in R software. The prognostic risk model was further validated in the TCGA database. Finally, GSEA was performed to investigate the different enrichment pathways between high_risk and low_risk groups. Nine genes (BEX4, CCL14, CCL3, CMPK2, FMOD, GHR, HLF, IGFBP5, PAG1) were selected to construct the prognostic model. Patients in the low_risk group had a significantly better prognosis than those in the high_risk group. hsa_circ_0021727-hsa-miR-133b-PAG1 regulatory axis may participate in the regulatory of cervical cancer. The enrichment pathways to patients in the high-risk group and the low-risk group were different. The results were not validated by in vitro and in vivo experiments. We developed an immune-related prognostic model and lncRNA-miRNA-mRNA ceRNA network, which can predict prognosis and understand the mechanism of cervical cancer.

DOI: 10.1134/S1022795424030165
К статье на сайте SpringerLink

Elucidating the Molecular Genetics of Genes CYP19A1, CYP17, and FSHR Variants Association in Polycystic Ovarian Syndrome

K. Bashir, A. Anum, I. Idrees, H. T. Manzoor

Department of Zoology, Institute of Molecular Biology and Biotechnology, University of Lahore, Sargodha Campus, 40100, Sargodha, Pakistan
Correspondence to K. Bashir

Association of genes CYP19A1 (rs2414096), CYP17 (rs743572) and FSHR (rs2268361) variants on the susceptibility of developing PCOS was studied. This disease is most common problem faced by Pakistani females. The incidence of this disease has increased last couple of decades but no work on genes involved in PCOS has been done so far in Pakistan. Blood samples of 300 subjects including 150 PCOS cases and 150 age-matched controls were collected from different hospitals of Pakistan. DNA extraction from whole blood was done followed by DNA amplification. Data was collected on a pre-designed questionnaire for age, BMI, smoking status, and family history. Statistical analysis was done using different statistical tools. Homozygous mutant (GG) of rs2414096 SNP of CYP19A1 gene contributes significantly to the decreased risk of PCOS (OR = 0.24; 95% CI = 0.15–0.40; P = 0.0001), while heterozygous (AG) of the same SNP shows positive association with increased PCOS risk up to 2.62 folds (OR = 2.62; 95% CI = 1.60–4.30; P = 0.0001). Combined genotype model (GG+AG) of this SNP again shows significant association with decreased PCOS risk (OR = 0.44; 95% CI = 0.24–0.81; P = 0.0086). In Case of rs743572 polymorphism of CYP17 gene, homozygous mutant (CC) significantly increased the risk of PCOS by 3.2-fold (OR = 3.22; 95% CI = 1.94–4.34; p = 0.0001) while heterozygous (TC) of the same SNP significantly decreased the risk of PCOS (OR = 0.34; 95% CI = 0.20–0.58; p = 0.0001). In rs2268361 variants of FSHR gene, homozygous mutant (TT) significantly decreases the risk of PCOS and plays a protective role (OR = 0.52; 95% CI = 0.33–0.84; p = 0.0072) while heterozygous (CT) of the same SNP significantly increases the risk of PCOS up to 3 folds (OR = 3.46; 95% CI = 1.97–6.07; p = 0.0001). An increased risk of PCOS is associated with the rs2414096, rs743572 and rs2268361 genotype of genes CYP19A1, CYP17 and FSHR respectively.

DOI: 10.1134/S1022795424030049
К статье на сайте SpringerLink