RESUMO
Hemangioblastoma of the central nervous system occurs as sporadic tumors or as a part of von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary tumor syndrome caused by a germline mutation in the VHL tumor suppressor gene. We screened a Chinese family with VHL for mutations in the VHL gene and evaluated a genetic test for diagnosing VHL disease and clinical screening of family members. DNA extracted from the peripheral blood of all live members and from tissue of deceased family members with VHL disease was amplified by polymerase chain reaction to 3 VHL gene exons. Mutations in the amplification products were compared against the Human Gene Mutation Database. The involvement of multiple organs among the kindred with VHL disease was confirmed by medical history and radiography. Of the 12 members of the 4-generation family, 5 were diagnosed with VHL disease. Patient age at the initial diagnosis was 26-36 years (mean = 31 years). The mean time was 15 (11-19 months) from symptom appearance to the first patient visit to the hospital. Sequence analysis revealed that the frameshift mutation 327del C (p.Gly39Alafs*26) in exon 1 affected all family members, but not the healthy individuals or 16 unrelated controls. Members without gene mutation showed no clinical manifestation of VHL disease. We detected a conserved novel frameshift mutation in the VHL gene of the family members that contributes to VHL. DNA analysis of VHL is advantageous for VHL diagnosis. We developed a quick and reliable method for VHL diagnosis.
Assuntos
Mutação da Fase de Leitura , Hemangioblastoma/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética , Adulto , Análise Mutacional de DNA , Feminino , Testes Genéticos , Hemangioblastoma/diagnóstico , Hemangioblastoma/etiologia , Humanos , Masculino , Linhagem , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnósticoRESUMO
The differential screening method was used to isolate the soy photoperiodic response-related genes and to further elucidate the molecular mechanisms of the soybean photoperiodic response. The light-sensitive species Zhong Dou 24 was used to receive long-time sunshine, short-time sunshine, and natural sunshine treatment. The cDNA-amplified fragment length polymorphism technique was used to screen the differentially expressed cDNA fragments. The rapid amplification of cDNA end technique was used to isolate the gene. Semi-quantitative reverse transcription polymerase chain reaction analysis was used to analyze the gene expression patterns in different light cycles. The gene had a total length of 983 bp, contained a complete open reading frame that encoded 248 amino acids, and shared homology with the mitochondrial phosphate transporter protein. The expression pattern analysis results showed that this gene was expressed in the early stages of soybean growth and development. The short-time sunshine inhibited its expression, whereas the long-time sunshine enhanced its expression. The differential screening method was used to isolate the soybean mitochondrial phosphate transporter gene. The gene may be used as a negative regulatory factor that is involved in the photoperiodic response of soybean.