Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(6): 787-790, 2018 Dec 10.
Artigo em Zh | MEDLINE | ID: mdl-30512146

RESUMO

OBJECTIVE: To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR). METHODS: Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. The accuracy, sensitivity and detective linearity range of the developed method were evaluated by detection of the target gene gradient concentration samples. The applicability was also evaluated by testing 20 maternal plasma samples. RESULTS: The ddPCR method could accurately detect the beta-thalassemia CD41-42 mutation in cell-free DNA derived from maternal plasma. Within the target sequence concentration ratio of 5.00%-0.50%, the relative errors were all < 0.05, the linear regression equation was Y=1.0101-X-0.0071 and R2=0.9994. The results of 20 maternal plasma cell-free DNA samples were all consistent with those of the follow-up testing. CONCLUSION: A ddPCR method for detecting parental CD41-42 mutation in cell-free DNA from maternal plasma was developed. The method is simple, rapid, accurate, and can be applied for non-invasive prenatal diagnosis for couples simultaneously carrying the CD41-42 mutation.


Assuntos
Ácidos Nucleicos Livres , Reação em Cadeia da Polimerase , Diagnóstico Pré-Natal/métodos , Talassemia beta/diagnóstico , DNA/sangue , Feminino , Humanos , Mutação , Gravidez , Talassemia beta/genética
2.
J Med Screen ; 31(1): 53-57, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37439030

RESUMO

OBJECTIVES: As one of the most common hereditary diseases, thalassemia affects a large number of people in China. The aim of this study was to investigate the feasibility of a method based on next-generation sequencing (NGS) for screening of thalassemia carriers among high school students in the Shaoguan area. MATERIALS AND METHODS: The NGS-based method was performed using 25,910 high school students recruited from 38 schools. The screening yield was systematically analyzed. Before screening, a lecture on how the disease is inherited, the symptoms of thalassemia, and how to prevent it was given to 28,780 students. RESULTS: Implying successful delivery of information on the disease, 90.03% (25,910 of 28,780) of the students agreed to join this program for thalassemia screening. A thalassemia carrier rate of 15.99% (4144 of 25,910) was found. Also, 69 rare genotypes (28 of α-thalassemia and 41 of ß-thalassemia) and 9 novel variants were identified. CONCLUSIONS: This NGS-based method provided a feasible platform for high school population thalassemia screening. Combined with a clinical follow-up strategy, it could help eventually to prevent the births of affected children.


Assuntos
Talassemia alfa , Talassemia beta , Criança , Humanos , Detecção Precoce de Câncer , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética , China/epidemiologia , Genótipo , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Estudantes , Mutação
3.
Mol Med Rep ; 21(3): 1296-1303, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31894332

RESUMO

Long non­coding RNAs (lncRNAs) are important mediators of the initiation and progression of tumors, including breast cancer (BC). The exact role of long intergenic non­coding RNA 00312 (LINC00312) in BC and its mechanism of action have not been reported to date. In the present study, LINC00312 was found to be downregulated in human BC tissues and cell lines by RT­qPCR. The findings of a functional study indicated that overexpression of LINC00312 suppressed the proliferation, colony forming ability, migration and invasiveness of BC cell lines. Mechanistically, LINC00312 was found to induce suppression of cell migration and invasion by directly binding to miR­9. Overexpression of LINC00312 increased the expression of cadherin 1 (CDH1), a direct target of miR­9, and decreased the expression of vimentin (VIM), a major cytoskeletal component of mesenchymal cells as determined by western blot analysis. miR­9 partly abrogated the upregulation of CDH1 and downregulation of VIM induced by LINC00312. Taken together, the results of the present study indicate a role for the LINC00312/miR­9/CDH1 axis in the progression of BC, and suggest a novel lncRNA­based diagnostic biomarker or therapeutic target for BC.


Assuntos
Antígenos CD/genética , Neoplasias da Mama/genética , Caderinas/genética , Regulação Neoplásica da Expressão Gênica , MicroRNAs/genética , Interferência de RNA , RNA Longo não Codificante/genética , Neoplasias da Mama/patologia , Linhagem Celular Tumoral , Proliferação de Células/genética , Feminino , Genes Reporter , Humanos , Células-Tronco Neoplásicas/metabolismo , Ligação Proteica
4.
Int J Mol Med ; 34(4): 1045-50, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25176272

RESUMO

Achyranthes bidentata polysaccharides (ABPS) are the active components of Radix Achyranthis Bidentatae (AB), which has been extensively used in Traditional Chinese medicine (TCM) in the treatment of osteoarthritis (OA). Our previous study provided evidence that ABPS regulated the G1/S transition to promote chondrocyte proliferation. However, the precise mechanisms involved remain to be elucidated. In the present study, we aimed to investigate the effects of ABPS on the Wnt/ß­catenin signaling pathway in chondrocytes. Chondrocytes, obtained from the knee cartilage of Sprague-Dawley rats, were identified by type II collagen immunohistochemistry. ABPS upregulated the expression of Wnt-4, Frizzled-2, ß-catenin and cyclin D1, and downregulated the expression of glycogen synthase kinase 3ß (GSK-3ß), as shown by reverse transcription PCR (RT-PCR) and western blot analysis. Using immunofluorescence, we also found that ABPS induced ß-catenin nuclear translocation. Importantly, the expression of ß-catenin and cyclin D1 was partly inhibited by Dickkopf-1 (DKK-1), an inhibitor of the Wnt/ß-catenin signaling pathway. In addition, we found that ABPS increased the expression of type II collagen in chondrocytes. These results suggest that ABPS promote chondrocyte proliferation by activating the Wnt/ß-catenin signaling pathway.


Assuntos
Achyranthes/química , Condrócitos/citologia , Condrócitos/metabolismo , Polissacarídeos/farmacologia , Via de Sinalização Wnt/efeitos dos fármacos , Animais , Núcleo Celular/efeitos dos fármacos , Núcleo Celular/metabolismo , Proliferação de Células/efeitos dos fármacos , Forma Celular/efeitos dos fármacos , Células Cultivadas , Condrócitos/efeitos dos fármacos , Condrócitos/enzimologia , Colágeno Tipo II/metabolismo , Ciclina D1/metabolismo , Receptores Frizzled/metabolismo , Regulação da Expressão Gênica/efeitos dos fármacos , Quinase 3 da Glicogênio Sintase/metabolismo , Glicogênio Sintase Quinase 3 beta , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Masculino , Transporte Proteico/efeitos dos fármacos , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Ratos Sprague-Dawley , beta Catenina/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA