RESUMO
<p><b>OBJECTIVE</b>To detect the VHL gene mutations in a Chinese family with nonsyndromic pheochromocytoma.</p><p><b>METHODS</b>Mutations of VHL gene were detected in a Chinese family with nonsyndromic pheochromocytoma. Five patients and fifteen relatives were involved in this study. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction (PCR). PCR products of all the three exons of VHL gene were purified and a direct gene sequence analysis was performed.</p><p><b>RESULTS</b>All the five patients presented a codon 125 from Histidine (H) to Proline (P) change at nucleotide 587 (A --> C) in exon 2. Seven members of fifteen relatives were carriers with the same VHL gene mutation. Two carriers were detected with bilateral adrenal tumors and right renal cyst respectively by ultrasonic inspection.</p><p><b>CONCLUSION</b>The novel VHL gene mutation detected in this kindred may be the causative gene. Genetic test can detect the carriers in an early period. It is recommended as a routine method of genetic test in nonsyndromic pheochromocytoma patients.</p>
Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Adulto Jovem , Neoplasias das Glândulas Suprarrenais , Diagnóstico , Etnologia , Genética , Povo Asiático , Genética , Sequência de Bases , China , Análise Mutacional de DNA , Saúde da Família , Testes Genéticos , Mutação , Linhagem , Feocromocitoma , Diagnóstico , Etnologia , Genética , Reação em Cadeia da Polimerase , Proteína Supressora de Tumor Von Hippel-Lindau , GenéticaRESUMO
<p><b>OBJECTIVE</b>To study the effects of polychlorinated biphenyl (PCB) on bcl-2 and TGFbeta1 expression in rat testes.</p><p><b>METHODS</b>Forty male Wistar rats were divided into 4 groups at random: Group A (normal control), Group B (fed on 10(-8) mol/L PBC), Group C (feb on 10(-7) mol/L) and Group D (feb on 10(-6) mol/L). After three months, all the rats were killed, the animal model established, and observations made on the expression of bcl2 and TGFbeta1 in the rat testis using the optical microscope and immunohistochemical techniques.</p><p><b>RESULTS</b>The damage to the structure of the testis was related to the dosage of PCB: the higher the dodage, the more serious the damage. PCB induced the expression of bcl-2 and TGFbeta1. The TGFbeta1 expression was significantly higher in the highest dosage group than in others (P < 0.01 ), and the bcl-2 expression was dramatically higher in Group C than in other groups (P < 0.01).</p><p><b>CONCLUSION</b>PCB can cause injury in rat testes.</p>