RESUMEN

Our aim was to investigate molecular features of thalassemia for proper clinical consultation and prevention in Heyuan. In our research, a total of 25,437 positive screening subjects were further subjected to a genetic analysis of α-thalassemia (α-thal) and ß-thalassemia (ß-thal). The deletion of α-thal mutation was tested by Gap-PCR, while the non-deletion of α-thal and ß-thal mutation were identified by the PCR-reverse dot blot (PCR-RDB) technique. Nested PCR detected Hkαα/-- SEA and Hkαα/αα. Among the 25,437 positive screening subjects, 44.09% (11216/25437) subjects were bearers of thalassemia variations, and 30.85% (7847/25437) subjects showed α-thal changes alone. Among the 23 genotypes with α-thal mutation alone, the three common genotypes were --SEA/αα(68.34%), -α3.7/αα(16.44%), and -α4.2/αα(6.38%). Of the 11.50% (2924/25437) subjects and 29 genotypes with ß-thal mutation alone, the three common genotypes were ßCD41-42/ßN(36.22%), ßIVS-II-654/ßN(30.88%), and ß-28/ßN(13.47%). Additionally, of the 1.75% (445/25437) subjects and 55 genotypes showed both α- and ß-thal mutations. We also identified 269 cases of Hb H and six patients of Hkαα. Furthermore, the common genotypes of α-thal and ß-thal mutations were consistent with allele frequencies of mutations. Our study establishes molecular features of thalassemia among Hakka people in Heyuan. It will be useful for developing strategies to prevent thalassemia.

RESUMEN

OBJECTIVE: Hearing loss (HL) can severely impact the quality of human life. To explore strategies for clinical interventions, we investigated hearing screening coupled with genetic testing of deafness among Hakka newborns. METHODS: The testing was performed on 4205 newborns who born in Heyuan of Guangdong province between December 2018 and November 2019. Hearing screening used otoacoustic emission(OAE) coupled with automatic auditory brainstem response(AABR). A total of 13 hot spot mutations in GJB2, SLC26A4, mtDNA, and GJB3 genes were screened using PCR accompanied by flow-through hybridization technology. RESULTS: Among the 4205 newborns, the number of 47 individuals who failed the hearing testing accounted for 1.12％(47/4205). The genetic screening displayed that 176 individuals(4.19%,176/4205) discovered to carry more than one mutant site. The gene carrier frequency of GJB2, SLC26A4, GJB3, and mtDNA was 2.24%, 1.76%, 0.19%, and 0.07% respectively. The most carried mutations were GJB2 c.235del (2.05%), followed by SLC26A4 c.IVS7-2A > G(1.38%). A total of 216 (5.14%, 216/4205) high-risk children detected by combined hearing screening and genetic screening of deafness. Pairwise comparison (1.12% vs 4.19% vs 5.14%) showed significant differences for the positive rate of detection(χ 2 = 11.045, P < 0.001). The difference was no statistical significance between neonatal demographics information and genetic mutations using logistic regression analysis(all P > 0.05). CONCLUSIONS: Among Hakka newborns in Heyuan, the carrier rate of GJB2 c.235delC was the highest. Combining with two screening methods will effectually increase the detection rate of neonatal deafness and play an essential role in clinical intervention.

Asunto(s)

Pruebas Genéticas/métodos , Pérdida Auditiva/diagnóstico , Pruebas Auditivas/métodos , Tamizaje Neonatal/métodos , China/epidemiología , Sordera/diagnóstico , Sordera/etnología , Sordera/genética , Femenino , Marcadores Genéticos , Pérdida Auditiva/etnología , Pérdida Auditiva/genética , Humanos , Recién Nacido , Masculino , Mutación

RESUMEN

In this study, we describe a novel mycovirus isolated from Ustilaginoidea virens strain GZ-2, which was designated "Ustilaginoidea virens nonsegmented virus 2" (UvNV-2). The genome of UvNV-2 contains two overlapping open reading frames (ORFs). ORF1 encodes an unknown protein, and ORF2 encodes a putative RNA-dependent RNA polymerase (RdRp), which is most closely related to that of Purpureocillium lilacinum nonsegmented virus 1 (PINV-1) and is likely to be expressed by a + 1 ribosomal frameshift within the sequence CCC_UUU_UAG. A phylogenetic analysis of the RdRp of UvNV-2 showed that UvNV-2 is an unclassified mycovirus.

Asunto(s)

Virus Fúngicos/aislamiento & purificación , Hypocreales/virología , Enfermedades de las Plantas/microbiología , Secuencia de Bases , Virus Fúngicos/clasificación , Virus Fúngicos/enzimología , Virus Fúngicos/genética , Genoma Viral , Hypocreales/fisiología , Datos de Secuencia Molecular , Sistemas de Lectura Abierta , Oryza/microbiología , Filogenia , ARN Polimerasa Dependiente del ARN/genética , Análisis de Secuencia de ADN , Proteínas Virales/genética , Proteínas Virales/metabolismo

RESUMEN

In this study, we describe a novel mycovirus isolated from Trichoderma asperellum, which was designated Trichoderma asperellum dsRNA Virus 1 (TaRV1). The sequence analysis revealed that TaRV1 has two discontinuous open reading frames (ORF), ORF1 and ORF2. A hypothetical protein and an RNA-dependent RNA polymerase are encoded by ORF1 and ORF2, respectively. Phylogenetic analysis based on RdRp sequences clearly places TaRV1 in a taxonomically unassigned dsRNA mycovirus group.

Asunto(s)

Virus Fúngicos/aislamiento & purificación , Virus ARN/aislamiento & purificación , Trichoderma/virología , China , Virus Fúngicos/clasificación , Virus Fúngicos/enzimología , Virus Fúngicos/genética , Genoma Viral , Sistemas de Lectura Abierta , Filogenia , Virus ARN/clasificación , Virus ARN/enzimología , Virus ARN/genética , ARN Bicatenario/genética , ARN Viral/genética , Análisis de Secuencia de ADN , Microbiología del Suelo , Trichoderma/genética , Trichoderma/aislamiento & purificación , Proteínas Virales/genética

RESUMEN

BACKGROUND: Human papillomavirus (HPV) infection is the primary risk factor for cervical cancer. HPV genotypes are associated with varying degrees of pathogenicity. To better formulate strategies for cervical cancer prevention, we investigated the population-specific distribution of HPV genotypes, including those with high carcinogenicity. METHODS: From January to December 2012, a cervical cancer-screening program for HPV infection in Hakka women of Heyuan City Guangdong province was conducted. Of 736,000 women residents, 8,284 volunteers were recruited. The cytology specimens of 107 women were not adequate and excluded. Thus, 8,177 women submitted to polymerase chain reaction (PCR) sequencing of 16 HPV genotypes via MassARRAY spectrometry. RESULTS: Risk stratification based on genotypes indicated that the prevalence of overall, high-risk, and low-risk HPV infections was 12.27%, 14.20%, and 0.79%, respectively. Of the 1,003 women positively infected, 82.75% were infected with a single HPV type; 17.25% were infected with ≥2 types. Analysis revealed a U-shaped curve in HPV prevalence that correlated with age group, with peaks at ages 18-24 y (22.03%) and 60-65 y (25%). The most frequently detected HPV genotype was HPV-52 (26.81%), and then HPV-16 (17.54%), HPV-58 (14.25%), HPV-18 (10.16%), HPV-68 (8.27%), HPV-39 (5.68%), and HPV-51 (5.38%). CONCLUSIONS: HPV-52 is the most prevalent genotype infecting Hakka women. Therefore, vaccination against HPV-52 is imperative. The prevalence of HPV infection is highest in the younger (18-24 y) and older (60-65 y) age groups, indicating that screening for HPV in Hakka women should be performed early and maintained in the elderly.

RESUMEN

The retrieval-extinction paradigm, which disrupts the reconsolidation of fear memories in humans, is a non-invasive technique that can be used to prevent the return of fear in humans. In the present study, unconditioned stimulus revaluation was applied in the retrieval-extinction paradigm to investigate its promotion of conditioned fear extinction in the memory reconsolidation window after participants acquired conditioned fear. This experiment comprised three stages (acquisition, unconditioned stimulus revaluation, retrieval-extinction) and three methods for indexing fear (unconditioned stimulus expectancy, skin conductance response, conditioned stimulus pleasure rating). After the acquisition phase, we decreased the intensity of the unconditioned stimulus in one group (devaluation) and maintained constant for the other group (control). The results indicated that both groups exhibited similar levels of unconditioned stimulus expectancy, but the devaluation group had significantly smaller skin conductance responses and exhibited a growth in conditioned stimulus + pleasure. Thus, our findings indicate unconditioned stimulus revaluation effectively promoted the extinction of conditioned fear within the memory reconsolidation window.

Asunto(s)

Condicionamiento Clásico/fisiología , Extinción Psicológica/fisiología , Miedo/psicología , Consolidación de la Memoria/fisiología , Adulto , Emociones/fisiología , Femenino , Respuesta Galvánica de la Piel , Humanos , Masculino , Adulto Joven

RESUMEN

Non-structural protein 1 (NS1) of the influenza virus plays a crucial role in modulating the host immune response and facilitating virus replication. The formation of a homodimer or an oligomer is necessary for NS1 to exert its function efficiently. In the present study, the NS1 protein from the A/Shantou/602/06(H3N2) virus (herein abbreviated as NS32) was found to interact with NS1 from A/Shantou/169/06(H1N1), A/Chicken/Guangdong/1/05(H5N1) and A/Quail/Hong Kong/G1/97(H9N2) (abbreviated as NS11, NS51 and NS92, respectively) viruses, although NS32 shares 17.4%-20.9% sequence diversity with NS11, NS51 and NS92. This indicates that the heterologous interactions between NS1 proteins from different influenza A virus subtypes/ strains may be a common event during co-infection.

Asunto(s)

Subtipo H1N1 del Virus de la Influenza A/metabolismo , Subtipo H3N2 del Virus de la Influenza A/metabolismo , Subtipo H5N1 del Virus de la Influenza A/metabolismo , Subtipo H9N2 del Virus de la Influenza A/metabolismo , Proteínas no Estructurales Virales/metabolismo , Secuencia de Aminoácidos , Animales , Línea Celular Tumoral , Pollos , Variación Genética , Proteínas Fluorescentes Verdes/genética , Proteínas Fluorescentes Verdes/metabolismo , Células HeLa , Humanos , Immunoblotting , Inmunoprecipitación , Subtipo H1N1 del Virus de la Influenza A/genética , Subtipo H3N2 del Virus de la Influenza A/genética , Subtipo H5N1 del Virus de la Influenza A/genética , Subtipo H9N2 del Virus de la Influenza A/genética , Gripe Aviar/virología , Gripe Humana/virología , Microscopía Fluorescente , Datos de Secuencia Molecular , Unión Proteica , Homología de Secuencia de Aminoácido , Especificidad de la Especie , Técnicas del Sistema de Dos Híbridos , Proteínas no Estructurales Virales/genética

RESUMEN

Phosphatidylinositol 3-kinase (PI3K)/Akt signalling pathway can support the replication of influenza A virus through binding of viral NS1 protein to the Src homology 3 (SH3) domain of p85beta regulatory subunit of PI3K. Here we investigated the effect of heterologously overexpressed SH3 on the replication of different influenza A virus subtypes/strains, and on the phosphorylation of Akt in the virus-infected cells. We found that heterologous SH3 reduced replication of influenza A viruses at varying degrees in a subtype/strain-dependent manner and SH3 overexpression reduced the induction of the phosphorylation of Akt in the cells infected with PR8(H1N1) and ST364(H3N2), but not with ST1233(H1N1), Ph2246(H9N2), and Qa199(H9N2). Our results suggest that interference with the NS1-p85beta interaction by heterologous SH3 can be served as a useful antiviral strategy against influenza A virus infection.

Asunto(s)

Regulación hacia Abajo , Virus de la Influenza A/fisiología , Gripe Humana/enzimología , Fosfatidilinositol 3-Quinasas/química , Fosfatidilinositol 3-Quinasas/metabolismo , Replicación Viral , Animales , Línea Celular , Perros , Humanos , Virus de la Influenza A/genética , Gripe Humana/genética , Gripe Humana/virología , Fosfatidilinositol 3-Quinasas/genética , Fosforilación , Unión Proteica , Subunidades de Proteína/química , Subunidades de Proteína/genética , Subunidades de Proteína/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Proteínas no Estructurales Virales/genética , Proteínas no Estructurales Virales/metabolismo , Dominios Homologos src