CSDL Bài trích Báo - Tạp chí
Khoa Y
1401 Complete human mtDNA genome sequences revealed haplotype features of the Hmong-Mien language family in Vietnam / Dinh Huong Thao, Nong Van Hai, Nguyen Thuy Duong // Academia Journal of Biology .- 2022 .- Vol 44 - N2 .- P. 21-28 .- 610
In this study, we analyzed the mitochondrial DNA sequences taken from 120 males belonging Hmong-Mien (HM) language family in Vietnam: Dao, Hmong, and Pathen, revealing 352 unique variants. Dao has the most number of polymorphisms (230 unique SNPs occurring 1469 times), followed by Hmong (181 unique SNPs occurring 1367 times) and Pathen (159 SNPs occurring 1243 times). Genetic variations within each population and among Hmong-Mien speakers were further measured by computations of haplotype diversity (H), nucleotide diversity (π) and fixation index (FST).
1402 Detection of c.G2194A mutation in AR gene of a vietnamese patient with androgen insensitivity syndrome: a case report / Thu Hien Nguyen, Lien Nguyen Thi Kim, Huy Hoang Nguyen, Ngan Nguyen Thi Thanh, Huong Giang Tran Thi, Hong Nhung Nguyen, Nguyen Thi Phuong Mai, Huy Hoang Nguyen // Academia Journal of Biology .- 2022 .- Vol 44 - N2 .- P. 65-72 .- 610
In this study, whole-exome sequencing was performed to screen mutations in the AR gene as well as genes related to disorders of sex development (DSD). Sanger sequencing was applied to validate the mutations in the patient. One missense mutation in the AR gene which was reported previously was identified in the patient. In this site, nucleotide G is changed to A at position 2194 on cDNA (c.G2194A), leading to a substitution of aspartic at position 732 aspartic to asparagine (p.Asp732Asn). However, this is the first published case in a Vietnamese with this mutation. Our study expands the mutation spectrum of the AR gene in Vietnamese patients and confirms the usefulness of whole-exome sequencing in the diagnosis of AIS. The results of the study are the basis for supporting doctors in prenatal diagnosis and giving reasonable advice to patients and families.
1403 Association of TEX15 rs142485241 with male infertility in 429 Vietnamese individuals / Nguyen Thuy Duong, La Duc Duy, Nong Van Hai // Academia Journal of Biology .- 2022 .- Vol 44 - N2 .- P. 73-78 .- 610
Male infertility is a reproductive disease caused by various factors, including environmental factors and genetic defects. Thousands of genes have been identified to cause and associate with male infertility, such as TEX15. Our study aimed to identify the association between the polymorphism TEX15 rs142485241 and male infertility. Total DNAs were extracted from the whole blood of 429 unrelated Vietnamese individuals, including 202 healthy controls and 227 patients with male infertility. The genotypes and alleles of the polymorphism were determined by the PCR-RFLP method. The data were analyzed by statistical methods to assess the association of TEX15 rs142485241 with male infertility. The results showed that the distribution of genotypes of the polymorphism followed the Hardy-Weinberg equilibrium (p-value > 0.05). However, no association was established between the polymorphism TEX15 rs142485241 and male infertility in the three models (additive, dominant, and recessive) (p-value > 0.05). This study would contribute to the knowledge about the association of TEX15 with male infertility in the Vietnamese population.
1404 N-alkanol stress-induced cell envelope injury of σE promoter in Escherichia coli / Huong Thi Bui // Academia Journal of Biology .- 2022 .- Vol 44 - N2 .- P. 91-104 .- 570
To characterize the cellular stress by n-alkanols with different alkyl chain lengths in Escherichia coli, we investigated how n-alkanols damage cell envelope permeability and whether they enhance the promoter activity of the envelope stress response regulator, σE, by using variants of green fluorescent protein (GFP). By using E. coli cells having GFPuv expressing and localizing in the cytoplasm, the inner membrane, and the periplasm, after exposure to n-alkanols, the fluorescent intensity of GFPuv released from cells was examined. Our data showed that at the similar levels of cell death of about 90–97%, ethanol, a short-chain alkanol, at a concentration of 20% damaged the outer membrane more greatly than the inner membrane, whereas a longer-chain alkanol of pentanol at a concentration of 1.125% damaged both of the outer and inner membranes. Then we investigated the envelope stress response to n-alkanols by σE factor by ratiometric analysis of rpoE promoter activity for the downstream GFPuv expression referenced to that of housekeeping sigma 70 (σ70 ) recognizing lacUV5 promoter for red fluorescent protein (RFP) expression. The results indicated that the relative activity of rpoE promoter by pentanol was much greater than that of ethanol. The degree of its sensitization by rpoE deficiency was much more remarkable for cells treated with pentanol than for those with ethanol. The results suggest that the response of the σE plays a significant role in the membrane integrity and survival of E. coli cells treated with n-alkanols depending on the alkyl chain length of the molecule.
1405 Effects of simulated microgravity on senescent human fibroblasts / Ly Ngoc Cang, Hoang Nghia Quang Huy, Hoang Nghia Son, Le Thanh Long // Academia Journal of Biology .- 2022 .- Vol 44 - N2 .- P. 115-122 .- 610
This study aimed to assess the effects of simulated microgravity (SMG) on senescent human fibroblasts (HFs). The HFs were treated with 150 µM H2O2 in a culture medium for 90 minutes for senescent induction. The senescent HFs were induced SMG for 72 hours by a Gravity simulator, while the control group was treated in the same CO2 incubator. Cell morphology analysis showed that the SMG condition retrieved the fibroblastic morphology from the senescence. WST1 assay and cell counting indicated that the senescent HFs viability from the SMG group was higher than the control group (OD value of 0.80 ± 0.13 vs. 0.64 ± 0.11, respectively).
1406 Identification of the causative mutation in the ITGB2 gene in a LAD1 patient by whole exome sequencing / Nguyen Thi Kim Lien, Nguyen Thi Van Anh, Nguyen Van Tung, Duong Anh Linh, Nguyen Thi Phuong Mai, Nguyen Huy Hoang // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 213-218 .- 610
Leukocyte adhesion deficiency type 1 (LAD1) is a rare congenital immunodeficiency disease. The cause of disease is determined to be the mutations in the ITGB2 gene that codes for CD18, the beta chain of beta-2 integrins, leads to decreased expression or functioning of CD18. This deficiency leads to severe impairment of leukocyte adhesion to the vascular wall and leukocyte migration to sites of infection and inflammation. LAD1 has also been associated with inhibition of interleukin-23 and interleukin-17 resulting in a hyperinflammatory and chronic inflammation. Patients with LAD1 typically present in early infancy with recurrent, life threatening infections that are frequently fatal before 2 years of age without hematopoietic stem cell transplant (HSCT). However, LAD1 is difficult to diagnose and many LAD1 patients die at a young age despite intensive antibiotic therapy. Accurate diagnosis requires detailed clinical information (delayed umbilical cord loss, severe periodontitis, delayed wound healing and sores, skin abscesses, and recurrent infection), and confirmation the absence of integrins by flow cytometric analysis. A better understanding of the molecular characteristics of this disease is needed to raise awareness and definitive diagnosis infants with LAD1. To definitive diagnosis, whole exome sequencing and Sanger sequencing were performed in an eighteen-month-old boy with severe leukocytosis, recurrent infections, delayed wound healing, and hepatosplenomegaly associated with an acquired cytomegalovirus infection. Two variants: One previously reported mutation (c.533C>T, p.Pro178Leu) and one novel variant (c.59-1G>A), in the ITGB2 gene were detected. These results can be used for definitive genetic diagnosis, genetic counseling, as well as a prenatal diagnosis in LAD1 patients.
1407 The association of TEX15 haplotype with male infertility in Vietnamese individuals / La Duc Duy, Nguyen Phuong Anh, Nguyen Thuy Duong // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 219-224 .- 610
To assess the relationship between male infertility and TEX15 in a Vietnamese cohort, we performed a case-control association study of polymorphism TEX15 rs323345 and a further analysis of haplotypes of TEX15 rs323345 and TEX15 rs142485241. A total of 420 unrelated Vietnamese males, including 212 infertile patients and 208 healthy controls, were recruited for the present study. The genotype and allele frequencies of the polymorphism TEX15 rs323345 were determined by PCR-RFLP method.
1408 Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families / Pham Thi Minh Chau, Trinh Hong Anh, Luong Thi Lan Anh, Nguyen Thuy Duong, Nguyen Hai Ha // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 225-230 .- 610
Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth. Ultrasound-guided amniocentesis, amniotic cell culture, and Sanger sequencing for the specific RB1 region were used. The analysis results demonstrated that one of the amniotic cell samples was found to carry a genetic mutation that causes the disease, inherited from the father. Neonatal screening confirmed that the corresponding newborn of the amniotic cell sample with the causative gene mutation developed binocular retinoblastoma. Prenatal genetic testing on pregnant women in families with a risk of having a child with retinoblastoma should be performed to prepare a clinical diagnosis and treatment plan for the neonate.
1409 Evolutionary characterization of clades 2.3.4.4 H5N6 and 2.3.2.1c H5N1 HPAI viruses in Vietnam (2013–2019) revealed distinct reassortants from distant spillovers / Nguyen Trung Nam, Nguyen Hung Chi, Chu Hoang Ha, Do Thi Roan, Nguyen Thi Bich Nga, Le Thanh Hoa // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 231-243 .- 610
Highly pathogenic avian influenza (HPAI) H5Nx viruses have continually undergone multiple evolutionary dynamics for the generation of various clades, subclades, and genotypes where 2.3.2.2c, and 2.3.4.4 become predominant and co-circulating in Vietnam from 2014 to date. In this study, fifteen H5 sequences in our study and 90 from others from different clades, 0, 1, 1.1, 2.3.2.1a, 2.3.2.1c, 2.3.4, 2.3.4.1, 2.3.4.2, 2.3.4.3 and 2.3.4.4 of H5N1, H5N2, H5N6, were characterized for hemagglutinin (HA) properties, genetic and phylogenetic analyses. Blast searching using the dataset of the full length of two H5N6 viruses revealed one strain, e.g., A/Duck/Vietnam/HT7/2014(H5N6) in May 2014, belonging to the Sichuan 2014-lineage of Group D (Minor). The other strain, A/Chicken/Vietnam/NT3/2017(H5N6)/or CkNT3-2017 in the Spring of 2017, belonged to the Japanese-Korean late 2016-cluster of Group C (Major). This cluster possessed 140NHETS-145del stretch of Leucine/Serine deletion at position 145 in HA1 (S/L145del), distinct from all the 2.3.4.4 H5N6 viruses known to date. There has been no report of the similar CkNT3-2017 of 2.3.4.4 reassortant in Vietnam prior to our study. The migration flyway might be the route for transportation of this novel H5N6 virus from Japan to Vietnam. In addition, the topology revealed another novel subclade of H5N6 (2018–2019) possibly, of the Vietnamese internal reassortments. The “H5Nx” viruses in Vietnam, in fact, have continually undergone multiple evolutionary processes in parallel with those lineages in China and East-Asia. Variations at the key sites in HA and altered genetic characteristics in novel HPAI H5Nx viruses in Vietnam present a caution for the vaccination program and the risk for human infection.
1410 Nghiên cứu mới về các gen liên quan đến chứng nghiện rượu và thuốc lá / Mai Văn Thủy // Khoa học và Công nghệ Việt Nam A .- 2022 .- Số 10 (763) .- Tr. 56-57 .- 610
Phương pháp nghiên cứu trên toàn hệ gen (GWAS); Phát hiện vai trò mới của trình tự AND không mã hóa; Phát hiện mới dựa trên mô hình H-MAGMA.