RESUMEN
<p><b>OBJECTIVE</b>To assess the value of multiplex PCR-denaturing high-performance liquid chromatography (PCR-DHPLC) method for screening large duplications or deletions in patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA).</p><p><b>METHODS</b>DNA was extracted from peripheral venous blood samples from 35 DMD and 6 SMA patients. Large duplications or deletions were screened with multiplex PCR coupled with DHPLC method. The results were validated with testing of positive and negative controls.</p><p><b>RESULTS</b>Known duplications or deletions in all controls were reliably detected with multiple PCR coupled with DHPLC. Large duplications or deletions were found in 71.4% of 35 DMD patients, which included 5 large duplications and 20 large deletions. For SMA patients, deletions of SMN1 exon 7 were detected in 16 samples.</p><p><b>CONCLUSION</b>Multiplex PCR coupled with DHPLC method is an effective and reliable method for detecting large genomic duplications or deletions in patients with DMD or SMA.</p>
Asunto(s)
Humanos , Cromatografía Líquida de Alta Presión , Distrofina , Genética , Eliminación de Gen , Duplicación de Gen , Reacción en Cadena de la Polimerasa Multiplex , Atrofia Muscular Espinal , Diagnóstico , Genética , Distrofia Muscular de Duchenne , Diagnóstico , Genética , Proteína 1 para la Supervivencia de la Neurona Motora , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To explore the relationship between the overexpression of PKA RIalpha mRNA and cliniopathological parameters in lung cancer.</p><p><b>METHODS</b>RT-PCR was used to detect the expression of PKA RIalpha mRNA in 54 cases with human lung cancer and matched normal tissues.</p><p><b>RESULTS</b>(1) The expression of PKA RIalpha mRNA was significantly higher in cancer tissue (66.7%) than in normal tissues (20.4%) (P < 0.01). (2) The expression was significantly correlated with TNM stage (P < 0.01), being increased with TNM stage. (3) The expression was significantly higher in patients with positive lymph nodes than in those with negative lymph nodes (P < 0.01). (4) There were no significant associations of PKA RIalpha mRNA expression with histological type, differentiation grade or size of the tumor.</p><p><b>CONCLUSION</b>This study indicates that the overexpression of PKA RIalpha mRNA may play an important role in the progression, metastasis and prognosis of lung cancer.</p>
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adenocarcinoma , Metabolismo , Carcinoma de Células Escamosas , Metabolismo , Subunidad RIalfa de la Proteína Quinasa Dependiente de AMP Cíclico , Proteínas Quinasas Dependientes de AMP Cíclico , Genética , Regulación Neoplásica de la Expresión Génica , Neoplasias Pulmonares , Metabolismo , Patología , Metástasis Linfática , Estadificación de Neoplasias , Pronóstico , ARN Mensajero , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To evaluate the expression of three different RASSF1 transcripts and its clinical significance in lung carcinomas.</p><p><b>METHODS</b>The mRNA expression of RASSF1A, RASSF1B and RASSF1C was detected by RT-PCR in 51 human lung cancer tissues and 51 matched normal tissues.</p><p><b>RESULTS</b>1. The mRNA expression of three RASSF1 transcripts was detectable in all non-cancer tissues. However, high rate of expression loss of RASSF1A and RASSF1B existed in lung cancer tissues, which was 53.2% (2851) and 37.3% (19/51), respectively. RASSF1C was expressed in all of the tumor tissues. 2. Loss or abnormal down-regulation of RASSF1A was positively related with lymph node metastasis and TNM stage (P < 0.05) and 3. RASSF1B and RASSF1C mRNA expression was not correlated with TNM stage, histological type, differentiation grade or smoking index.</p><p><b>CONCLUSION</b>There is a significant expression difference among the three RASSF1 transcripts in lung carcinoma. RASSF1A, closely associated with lymph metastasis and TNM stage of lung carcinoma, should be a new tumor suppressor gene.</p>