RESUMO
Insulin-like growth factor binding protein-6 (IGFBP-6) is a member of the IGFBP family, which is known to be a key factor in regulating the effect of insulin-like growth factor-2 (IGF-2) on the animal growth and development. Gene sequences of 3'-untranslated regions (UTR) and exon 4 of IGFBP-6 may influence the expression and proteolysis of IGFBP-6. In this study, 551 bp of the IGFBP-6 (including 257 bp of intron 3, exon 4, and 170 bp of 3' UTR) were sequenced and compared in the Bama and Tibetan mini-pigs, the Landrace and Large White pigs, and the Northeast wild boars. Six single nucleotide polymorphisms (SNPs) were detected in the IGFBP-6, in which T593C, T636C, and T745C were in intron 3, A67G was in exon 4, and G37A was in 3' UTR. T636C, T745C, and A67G were in linkage and formed four kinds of haplotypes, with CCT being the dominant haplotype in the mini-pigs; however, the haplotype block was not formed in the Landrace pigs and Large White pigs or the Northeast wild boars. Based on the above results, we concluded that the SNPs and haplotype of the IGFBP-6 may be related to the mini-size formation of the pig.
Assuntos
Tamanho Corporal/genética , Estudos de Associação Genética , Ligação Genética , Proteína 6 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Polimorfismo de Nucleotídeo Único , Alelos , Animais , Feminino , Frequência do Gene , Genótipo , Haplótipos , Desequilíbrio de Ligação , Masculino , Locos de Características Quantitativas , Análise de Sequência de DNA , SuínosRESUMO
The aim of this study was to investigate the relationship between a lipoprotein lipase (LPL) gene polymorphism in placental tissue and insulin resistance (IR) in patients with gestational diabetes mellitus. Using polymerase chain reaction-restriction enzyme fragment length polymorphism (PCR-RFLP) analysis, the LPL HindIII RFLP was examined in the placental tissue of 110 patients with gestational diabetes mellitus (observation group) and 110 women with normal gestation (control group). The relationships between fasting plasma glucose (FPG), postprandial plasma glucose (PPG), fasting insulin (FINS), cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL), low density lipoprotein (LDL), body mass index (BMI), and IR indices and the LPL polymorphism in the two study groups and their offspring were determined. The frequency of the H+ allele was significantly higher in the observation group than in the controls (P < 0.05). There were statistically significant differences in the observation group between the FPG, PPG, LDL, TC, TG, HDL, BMI, FINS, and IR indices of the H+H+ group and those of the non H+H+ type patients (P < 0.05). Correlation analysis showed that the LPL gene polymorphism was positively related to IR. There were statistically significant differences between HDL, BMI, and IR indices between the two study groups (P < 0.05). In conclusion, the LPL gene polymorphism was determined to be the main factor related to IR in women with gestational diabetes, and was also found to be related to the IR of their offspring.
Assuntos
Diabetes Gestacional/enzimologia , Diabetes Gestacional/genética , Resistência à Insulina/genética , Lipase Lipoproteica/genética , Placenta/enzimologia , Polimorfismo Genético , Adulto , Diabetes Gestacional/sangue , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , GravidezRESUMO
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
PURPOSE: To explore the association between the 3,144 m/z protein peak and the clinicopathological features and prognosis in breast cancer. METHODS: Using SELDI-TOF MS, we analyzed serum protein peak at 3,144 m/z in 283 patients with node-positive breast cancer, its relationship with clinicopathological features and their prognosis evaluating value of survival. RESULTS: 3,144 m/z positive rate was higher in elderly patients (42.8 % in ≥50-year-old vs. 31.2 % in <50, P = 0.04). However, no correlation was observed between 3,144 m/z and other clinicopathological features (body mass index, menstrual status, family history, TNM, molecular subtypes, vascular invasion, neural invasion, p53 and CA15-3). However, the positive rate of 3,144 m/z was higher than that of CA15-3 (35.5 vs. 11.4 %, McNemar χ (2) test, p < 0.001). 3,144 m/z-negative patients (n = 177) had a better 3-year overall survival (OS) than 3,144 m/z-positive patients (n = 106) (89.8 vs. 81.2 %, P = 0.045). Younger patients (P = 0.016), postmenopausal status (P = 0.019), small tumor (P < 0.001), less positive nodes (P < 0.001), early stage (P < 0.001), favorable molecular subtype (P = 0.007), normal CA15-3 (P = 0.003) and neoadjuvant chemotherapy (P = 0.001) predicted better survival. Cox analysis showed that T3-4 (95 % CI 1.419-8.057, P = 0.006), lymph node metastasis (95 % CI 1.242-3.632, P = 0.006) and p53 mutation (95 % CI 1.088-6.378, P = 0.032) were independent adverse prognostic factors. But childbirth ≥2 (95 % CI 0.163-0.986, P = 0.046), adjuvant chemotherapy (95 % CI 0.062-0.921, P = 0.038) and adjuvant radiotherapy (95 % CI 0.148-0.928, P = 0.034) were the independent factors in reducing risk of death in breast cancer patients. Combination testing of 3,144 m/z and CA15-3 will improve the prognosis value of 3-year survival (P = 0.011); patients with CA153-/3144- were characterized by the longest survival (89.8 %) and the CA153+/3144+ patients by the shortest. CONCLUSIONS: Serum protein peak at 3,144 m/z is a new biomarker for breast cancer diagnosis and prognosis and showed a higher positive rate than serum CA15-3. Combining 3,144 m/z and CA15-3 testing may improve prognosis of longer survival in breast cancer patients.
Assuntos
Biomarcadores Tumorais/sangue , Neoplasias da Mama/sangue , Antígeno CD24/sangue , Adulto , Idoso , Neoplasias da Mama/mortalidade , Neoplasias da Mama/patologia , Feminino , Humanos , Metástase Linfática/patologia , Pessoa de Meia-Idade , Mucina-1/sangue , Modelos de Riscos Proporcionais , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por MatrizRESUMO
In this study, we isolated microsatellite DNA from the Huoyan goose genome with magnetic beads. As a result, 150 positive clones were identified, and 148 microsatellites were found. Among the 148 microsatellites, 69.6% were perfect, 17.6% were imperfect, and the rest were compound type (12.8%). Twenty microsatellite primers were used to screen 90 individuals from 3 Huoyan goose populations. Eight loci were polymorphic with a low number of alleles (2 to 4). The observed and expected heterozygosities ranged from 0.3556 to 1 and from 0.2923 to 0.6868, respectively. All the 8 polymorphic loci were in Hardy-Weinberg equilibrium. These molecular markers will be useful for future studies on population genetic structure and conservation genetics in Huoyan geese.
Assuntos
Gansos/genética , Repetições de Microssatélites , Alelos , Animais , Loci Gênicos , Variação Genética , Genética Populacional , Genótipo , Dados de Sequência MolecularRESUMO
Reduced AMP-activated protein kinase (AMPK) expression has been shown to play a significant role in the cardiac dysfunction in heart failure. This study was designed to examine the effect of resveratrol, a potent activator of silent information regulator (SIRT1), on cardiac function and AMPK expression in heart failure. Adult male rat left anterior descending arteries were ligated, and they were fed with either a regular diet or a diet enriched with resveratrol. Heart failure was produced by myocardial infarction, and was associated with markedly increased AMPK and SIRT1 protein levels. Resveratrol treatment had a tremendous beneficial effect, both in terms of improving AMPK expression and on cardiac function. Decreased cardiac function and AMPK expression were also found in SIRT1 knockout (+/-) mice. In cultured cardiomyocytes, resveratrol increased AMPK and SIRT1 expressions, and overexpression of SIRT1 was found to be sufficient to activate AMPK in H9c2 cells. In contrast, pretreatment of cardiomyocytes with an SIRT1 antagonist, nicotinamide, blocked these beneficial effects of resveratrol. Therefore, the protective effects of resveratrol were found to be dependent on its ability to activate SIRT1 and improve AMPK expression. These results demonstrated that in heart failure, the enzymatic activity of cardiac SIRT1 is increased, which contributes to increased expression of AMPK, and resveratrol enhances the expression of AMPK and improves cardiac function through the activation of SIRT1.