RESUMEN
OBJECTIVE: To explore the association between the gene mutation of transcription factor Nkx2.5 and Chinese patients with congenital heart disease (CHD). METHODS: Polymerase chain reaction (PCR) and DNA sequencing were used to check 99 CHD patients and 90 normal control subjects from the Zhong Da Hospital of Southeast University. After amplifying the exons 1 of the Nkx2.5 gene by PCR, we purified the PCR products and conducted the sequencing reaction, analyzed the mutation screening of the exon 1 of the Nkx2.5, investigated whether or not the Nkx2.5 is related with the CHD in Chinese population. RESULTS: A mutation (A239G) in the exon 1 of the Nkx2.5 was identified in 3 of 90 normal control subjects and 12 of 99 CHD patients, including 3 of 24 with VSD, 7 of 35 with ASD, 1 of 13 with PS and 1 of 21 with PDA. CONCLUSION: There are some associations between the Nkx2.5 gene mutation and occurrence of congenital heart disease in Chinese people.
Asunto(s)
Cardiopatías Congénitas/genética , Proteínas de Homeodominio/genética , Mutación , Factores de Transcripción/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Exones , Femenino , Proteína Homeótica Nkx-2.5 , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
PURPOSE: To study the expression of angiogenin-2 (Ang-2) and its receptor Tie-2 in colorectal cancer and discuss the possible mechanisms behind this process. MATERIALS AND METHODS: Using the streptavidin-peroxidase (SP) immunohistochemical method, paraffin sections from 100 colorectal cancer samples and 10 samples from tumor-adjacent normal tissue (>2 cm from the edge of the gross tumor) were tested for protein expression of Ang-2, Tie-2, PI3K, and AKT. Reverse transcription-polymerase chain reaction and Western blots were further used to measure expression of the 4 genes and proteins in 20 freshly-resected colorectal cancer samples and tumor-adjacent normal tissues. RESULTS: In colorectal cancer tissues, the expression of the Ang-2, Tie-2, PI3K, and AKT genes and their proteins was significantly higher than in tumor-adjacent normal tissues. Protein expression in poorly-differentiated adenocarcinoma was higher than that in well and moderately differentiated adenocarcinoma. According to Duke's classification, the protein expression in Stages C and D was significantly higher than that in Stages A and B. In the group with lymphatic metastasis, the protein expression was higher than that without lymphatic metastasis. CONCLUSIONS: In colorectal cancer, the expression of the Ang-2, Tie-2, PI3K, and AKT genes and their proteins is markedly higher than those in tumor-adjacent normal tissues. No correlation was observed between protein expression and gender, location, or histologic type. Correlations did exist between protein expression and differentiation level, stage of Duke's classification, and lymphatic metastasis; in colorectal cancer tissues with lower differentiation levels, higher stages of Duke's classification, and lymphatic metastasis, the expression of all 4 proteins was higher. The study of their expression patterns and relationships with aggression and metastasis will provide a valuable experimental foundation for assessing prognosis and targeted therapy of colorectal cancer.