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| Zhou,Yong-An; Ma,Yun-Xia; Zhang,Quan-Bin; Gao,Wei-Hua; Liu,Jian-Ping; Yang,Jian-Ping; Zhang,Gai-Xiu; Zhang,Xiao-Gang; Yu,Liang. |
| The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243Q had the highest incidence in exon 7 (12.7%), followed by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene mutation; Phenylalanine hydroxylase; Phenylketonuria. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500001 |
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| Andrade,M.K.N.; Machado,S.M.A.; Leite,M.L.; Saad,M.H.F.. |
| Assuming that the IS6110-restriction fragment length polymorphism (RFLP) changes at a constant rate of 3.2 years, this methodology was applied to demonstrate, for the first time, variant patterns of Mycobacterium tuberculosis (MTB) in multiple isolates obtained at short time intervals from sputum and blood of an HIV+ patient with multiple admissions to the Emergency Room and to the multidrug-resistant tuberculosis (MDR-TB) Reference Center of a secondary-care hospital in Rio de Janeiro, Brazil. In sputum, the IS6110-RFLP appeared in isolates with two variant patterns with 10 and 13 IS6110 copies. However, blood presented only the pattern corresponding to 10 copies, suggesting compartmentalization. With regard to the exact match of 10 of 13 bands, this may... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Tuberculosis; Mycobacterium tuberculosis; TB-MDR; TB-RFLP; Gene mutation; Fingerprint. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000500006 |
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| Gasparotto,Elainy Patricia Lino; Tognon,Raquel; Ferreira,Aline Fernanda; Oliveira,Gislane Lelis Vilela; Palma,Patrícia Vianna Bonini; Zanichelli,Maria Aparecida; Souto,Elizabeth Xisto; Velano,Carlos Eduardo Engel; Simões,Belinda Pinto; Carrara,Rita de Cassia Viu; Kashima,Simone; Covas,Dimas Tadeu; Castro,Fabíola Attie de; Souza,Ana Maria de. |
| Apoptosis deregulation might have a role in the pathophysiology of polycythemia vera (PV). This study evaluated Bcl-2 molecule expression in CD34+ cells and leukocytes in 12 PV patients. Gene expression was investigated by real time PCR using SybrGreen Quantitect kit and protein expression was evaluated by western-blotting. JAK2 V617F mutation was detected according to Baxter et al (2005). CD34+ cells from PV patients presented higher levels of A1 and Mcl-1 expression (median: 22.6 and 5.2, respectively) in comparison with controls (0.9 and 0.5, p=0.004 and p=0.020); while Bcl-2 and Bcl-xL expression decreased in PV patients (0.18 and 1.19) compared with controls (1.39 and 2.01, p=0.006 and p=0.020). CD34+ cells in PV patients showed an elevated Bid... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polycythemia vera; Gene mutation; Gene expression; Apoptosis; Bcl-2 family members. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502011000400025 |
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