Dental phenotype analysis of patients with EDA genovariation related selective tooth agenesis / 实用口腔医学杂志

Objective:To analyze the dental phenotypes of patients with EDA genovariation related selective tooth agenesis.Meth-ods:We summarized the selective tooth agenesis patients with EDA genovariation,based on literature published before April 2023.The literature search was conducted using PubMed and multiple Chinese databases.The total number and the percentages of missing teeth were analyzed.The dental phenotype between male and female patients were compared.Results:EDA related selective tooth a-genesis mainly affects mandibular incisors(47.7％),mandibular and maxillary lateral incisors(41.6％and 40.1％respectively),while molars are seldom affected.Additionally,male patients were more affected than female and have more missing teeth.Conclusion:Dental phenotype analysis of EDA variants might contribute to precise prediction of causative genes from phenotype of missing teeth and guide for genetic counseling.

Anillin is a prognostic factor and is correlated with genovariation in pancreatic cancer based on databases analysis.

Pancreatic cancer has a low survival rate globally. Anillin (ANLN) is involved in the pathogenesis of pancreatic cancer (PC). The present study used databases and reverse transcription-quantitative PCR to investigate the association between ANLN expression, clinical variables and the survival rate of patients with pancreatic cancer. Gene expression of ANLN in normal and cancer tissues was analyzed using data from The Cancer Genome Atlas, Oncomine and Gene Expression database of Normal and Tumor tissues 2 and ANOVA, and the association between ANLN mRNA expression and ANLN genovariation was analyzed using cBioPortal. The association between ANLN expression and the survival, clinical, pathological and prognostic characteristics of PC was analyzed using Kaplan-Meier (K-M) survival analysis, Kruskal Wallis and Mann Whitney-U tests, and logistic and Cox regression models. Gene Set Enrichment Analysis (GSEA) revealed the molecular pathways underpinning ANLN function in PC. Overexpression of ANLN was observed in PC cells (normal vs. tumor, P<0.01) and tissues (normal vs. tumor, P=0.008). Enhanced ANLN expression was associated with high tumor grade (grade 1 vs. grade 3, odds ratio: 5.662, P<0.001). However, ANLN expression was not associated with other clinical features (all P>0.05). K-M analysis suggested that increased ANLN expression was associated with poor survival (P=0.002). Univariate and multivariate analysis revealed the ANLN is an independent prognostic factor for PC (P<0.001). GSEA demonstrated the p53, cell cycle, DNA replication, mismatch repair, nucleotide excision repair and PC pathways were associated with low expression of ANLN. Overall, ANLN is more highly expressed in PC compared with in normal tissue, and is associated with poor differentiation. The expression of ANLN may be a novel prognostic marker of poor survival. Finally, ANLN exert its functions in PC through the p53, cell cycle, DNA replication, mismatch repair and nucleotide excision repair and pathways.

A label-free genetic biosensor for diabetes based on AuNPs decorated ITO with electrochemiluminescent signaling.

The variation of I27L gene closely relates to increasing risk of type 2 diabetes, thus it is greatly significant to develop various methods for its identification or monitoring. We report here a novel label-free electrochemiluminescent (ECL) biosensor for simple and effective determination of I27L gene based on Au nanoparticles functionalized ITO electrode. The ECL technique is employed to monitor the hybridization of DNA strands by measuring the changes of its intensity. Here, the ECL signal was quenched by blocked access of probe (luminol anion) owing to the electrostatic repulsion of negatively charged sensor surface and the space resistance. The quantification of target strand can be directly realized by calibrating the quenched ECL signal toward its logarithm concentration in good linearity within the range from 1.0 × 10-11 to 1.0 × 10-7 M and a detection limit of 8.1 × 10-12 M. In addition, the biosensor exhibited good stability, excellent reproducibility and outstanding selectivity against one-base mismatched strand. What's more, the simple, low-cost, sensitive device could be easily miniaturized, makes it as an attractive candidate for integrating into portable platforms for point-of-care molecular diagnostics.

Genotype distribution and genetic variation analysis on human immunodeficiency virus-1 epidemic strains in Yunnan Province / 中华传染病杂志

Objective To investigate the subtypes distribution of human immunodeficiency virus (HIV)-1 epidemic strains and the characteristics of amino acid variation in different areas of Yunnan Province.Methods Totally 800 HIV/AIDS plasma specimens and epidemiological information were collected between 2012 and 2015 from 14 areas of Yunnan.Viral RNA was extracted and amplified using RT polymerase chain reaction (PCR).4.5 kb 5'halves fragments were obtained and directly sequenced.Subtypes of strains were identified by Genotyping,MEGA 6.06 and BLAST.Grouping was analyzed by location and subtype.Entropy software was used to analyze the difference of amino acid sequences between different groups according to the sampling location and subtypes to analyze the regional distribution and genetic variation of HIV-1 subtypes in Yunnan Province.Results Of the 800 plasma specimens,a total of 446 genomic sequences from 12 areas were successfully amplified and sequenced.After genotypes were identified,the subtypes of HIV-1 strains prevalent in Yunnan were CRF08_BC (58.3％),CRF01_AE (19.3％),CRF07_BC (11.6％),unknown recombinant forms (7.1％),B(B') (1.7％) and C (1.3％).The geographical distribution in Yunnan was analyzed.The CRF01_AE predominated in Dehong,Xishuangbarma and Wenshan.The CRF08_BC predominated in Lincang,Honghe and Puer (more than 70.0％) and CRF08_BC was prevalent in the other areas.But CRF07_BC in Kunming,Yuxi and Dali accounted for more than 20 ％.The constitutions of amino acid of three majors CRF08_BC,CRF01 _AE and CRF07_BC were different on 17,14 and 18 amino acid sites with statistical differences in the eastern and western regions of Yunnan Province (均P ＜ 0.05).Conclusions HIV-1 strains transmit and vary genetically in the province widely.The amino acid mutation sites of eastern and western strains are different.This difference represents that the same subtype strains in different geographical distribution vary on different genetic background and are selected by immune responses.The epidemic trends need to be closely monitored.

Analysis of correlation of the mutation of pulmonary surfactant protein B and C gene with respiratory distress ;syndrome in premature infants in Mongolian / 临床儿科杂志

Objective To analyze the correlation of the mutations of exon 4 of pulmonary surfactant protein (SP)-B and SP-C with respiratory distress syndrome (RDS) in Mongolian premature infants. Methods Fifty cases of hospitalized genetically unrelated Mongolian premature infants with RDS ( 31 males, 19 females) were recruited as RDS group. In the same period, 50 cases ( 27 males, 23 females) of non RDS genetically unrelated premature infants of same ethnicity were choose as the control group. PCR and gene detection were used to detect exon 4 of SP-B and SP-C genes. The differences of the genovariation and genotype frequency of 1580 locus in exon 4 in SP-B, and of c. 571 C?>?A (T 138 N) locus in exon 4 in SP-C were compared between two groups. Results The genovariation of 1580 locus in exon 4 in SP-B was detected in 14 cases (with aberration rate of 28%) in RDS group and in 11 cases (with aberration rate of 22%) in control group, and the difference is not signiifcant between two groups (χ2=0 . 480 , P?>?0 . 05 ). The genotype frequency of CC, TT and CT gene in 1580 locus were 16%, 72%, and 12%respectively in RDS group;and 10%, 78%, and 12%respectively in control group. Meanwhile, the C and T gene frequency was 22% and 78% respectively in RDS group, and 16% and 84% in control group. There was no significant difference in genotype frequency between two groups (χ2=1 . 170 , P?>?0 . 05 ). The genovariation of c. 571 C?>?A (T 138 N) locus in exon 4 in SP-C was detected in 41 cases (with aberration rate of 82%) in RDS group and in 6 cases (with aberration rate of 12%) in control group, and the difference is signiifcant between the two groups (χ2=49 . 177 , P??A (T 138 N) locus were 18%, 50%, and 32%respectively in RDS group;and 88%, 8%, and 4%in control group. Meanwhile, the C and A gene frequency was 34%and 66%respectively in RDS group, and 90%and 10%in control group. There was a signiifcant difference in A gene frequency between the two groups (χ2=66 . 553 , P??A (T 138 N) locus in exon 4 in SP-C gene were in a higher risk of RDS. The mutation of 1580 locus in exon 4 in SP-B had no correlation with Mongolian premature RDS.

Mitochondrial DNA mutation screening of male patients with obstructive sleep apnea-hypopnea syndrome.

The aim of the present study was to analyze the differences between the genes of the mitochondrial DNA (mtDNA) displacement loop (D-loop) region and the Cambridge Reference sequence, in order to screen the mutation sites and investigate the correlation between mutations, clinical parameters and complications associated with obstructive sleep apnea-hypopnea syndrome (OSAHS). mtDNA was obtained from male patients with OSAHS in the Zhejiang Province. In total, 60 male patients with OSAHS and 102 healthy adults were assessed to determine the levels of fasting blood glucose, total cholesterol, triglyceride (TG) and high-density and low-density lipoproteins (LDL). Furthermore, peripheral mtDNA was extracted and bidirectional sequencing was conducted to enable mutation screening. In the mtDNA D-loop region, 178 mutation sites were identified, of which 115 sites were present in the two groups. The number of non-common sites in the OSAHS group was significantly higher compared with the control group (P<0.05). No statistically significant difference was observed in the mutations among the mild, moderate and severe OSAHS groups (P>0.05). A total of 21 cases in the severe OSAHS group exhibited mutation rates of >10%. In the control group, there were 24 cases where the np73A-G and np263A-G mutations were predominant. The np303-np315 region was identified to be the highly variable region and various mutation forms were observed. Statistically significant differences were observed in the neck perimeter, TG and LDL levels among the OSAHS-no-mutation subgroups (P<0.05) and LDL was shown to be associated with an mtDNA mutation in the OSAHS group. Numerous polymorphic mutation sites were identified in the mtDNA D-loop region of the OSAHS group. Therefore, mtDNA mutation sites may be closely associated with the clinical manifestations and complications of OSAHS.

E Sequence Analysis of Persistently Infected Mutant Japanese Encephalitis Virus Strains / 华中科技大学学报（医学）（英德文版）

A persistent infection model was established after human hepatoma cells infected by Japanese encephalitis viruses were subcultured for several times. Viral titers of mutant viruses in persistently infected cells were examined by plaque methods using BHK cells. Nucleotides of the E coding region of two wild and two mutant viruses were amplified by RT-PCR. PCR products were sequenced by ABI-PRSMTM310 sequencing system. Compared to JaGAr-01 wild strains, four amino acids were replaced (E61Tyr→Asp, E219His→Tyr, E384Val→Glu, E418Pro→Ala) in the E sequence of JaGAr-01 persistently-infected mutant strains. Eleven amino acid replacement (E51Arg→Ser, E61Tyr→Asp, E83Lys→Glu, E123Ser→Arg, E209Arg→Lys, E227Pro→Ser, E276Asp→Ser,E290Arg→Lys, E387Lys→Arg, E418Leu→Pro, E454Arg→Gly) was also noted when we compared the E sequence between persistently infected Nakayama and its wild strains. A lot of similarities of amino acid sequence between mutant strains JaGAr-01 and Nakayama were also noted. It was concluded that geno-variation existed in E region of mutant viruses and the mutant protein encoded by E region, especially the mutation of E61 (Tyr→Asp) may contribute to the maintenance of the persistent infection of Japanese encephalitis virus.