|
|
|
|
|
| Chiarella,J.M.; Goldberg,A.C.; Abel,L.; Carvalho,E.M.; Kalil,J.; Dessein,A.. |
| Six hundred million people are at risk of infection by Schistosoma mansoni. MHC haplotypes have been reported to segregate with susceptibility to schistosomiasis in murine models. In humans, a major gene related to susceptibility/resistance to infection by S. mansoni (SM1) and displaying the mean fecal egg count as phenotype was detected by segregation analysis. This gene displayed a codominant mode of inheritance with an estimated frequency of 0.20-0.25 for the deleterious allele and accounted for more than 50% of the variance of infection levels. To determine if the SM1 gene segregates with the human MHC chromosomal region, we performed a linkage study by the lod score method. We typed for HLA-A, B, C, DR and DQ antigens in 11 informative families from... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HLA; Linkage study; Human schistosomiasis. |
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000500010 |
| |
|
|
| Bittencourt,P.L.; Palácios,S.A.; Couto,C.A.; Cançado,E.L.R.; Carrilho,F.J.; Laudanna,A.A.; Kalil,J.; Gayotto,L.C.C.; Goldberg,A.C.. |
| The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemochromatosis; HFE mutations; Iron overload; HLA-A3 mutation; C282Y mutation; H63D mutation; Chromosome 6. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000300007 |
| |
|
| |
|
|
| Deguti,M.M.; Sipahi,A.M.; Gayotto,L.C.C.; Palácios,S.A.; Bittencourt,P.L.; Goldberg,A.C.; Laudanna,A.A.; Carrilho,F.J.; Cançado,E.L.R.. |
| The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%), average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fatty liver; Nonalcoholic steatohepatitis; Iron overload; HFE gene; Alanine aminotransferase. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600009 |
| |
|
|
| Goldberg,A.C.; Chiarella,J.M.; Marin,M.L.C.; Rosales,C.; Banic,D.; Oliveira,M.A.; Rodrigues,H.; Viggiani,C.S.; Kalil,J.. |
| In the present paper we show data obtained from a normal population with a racially mixed profile typical of the city of São Paulo, State of São Paulo. Data were generated with polymerase chain reaction using sequence specific primers (PCR-SSP) for HLA-DRB and polymerase chain reaction followed by hybridization with sequence specific oligonucleotide probes (PCR-SSO) for HLA-DQA1 and HLA-DQB1 loci. HLA-DRB, DQA1, DQB1 and haplotype frequencies as well as common linkage disequilibria were found. This population was also shown to be in genetic equilibrium according to the Hardy-Weinberg law. HLA-DR typing of a normal sample from the city of Porto Velho, State of Rondonia, highlighted the importance of different sets of HLA profiles found in other regions of... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300001 |
| |
|
|
|
