Simple Fluorescent Pcr Method For Detection Of Large Deletions In The Beta-globin Gene Cluster.

We developed a semi-automated approach to detect large deletions in the beta-globin gene cluster, based on the quantitative differences in the amplifications of samples by a fluorescent PCR. With this strategy, we were able to detect the presence of HPFH-2 in an African-Brazilian subject, confirmed by sequencing analysis. Differently from other PCR strategies, GAP-PCR for example, it has the potential to identify new deletions.72225-

Haptoglobin Genotypes In Chagas' Disease.

To investigate the existence of an association between haptoglobin (Hp) genotypes and the severity of heart complications in Chagas' disease. Hp genotyping was performed by PCR in 107 Brazilian patients sub-classified in asymptomatic, with mild heart disease and with severe heart disease. Multiple logistic regression (R(2)=24%) indicated that patients with the Hp1-1 genotype have lower probability of developing the severe heart complications. The Hp polymorphism may influence the clinical evolution of Chagas' disease.43314-

Haptoglobin phenotypes in Brazilian patients with leukemia Fenótipos da haptoglobina em pacientes brasileiros com leucemia

Haptoglobin (HP) phenotypes were determined in 188 Brazilian patients with the four most common types of leukemia: acute myeloid leukemia (AML), chronic myeloid leukemia (CML), acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL), and were compared to 197 normal controls. We could not confirm the previously suggested increased incidence of the HP1 gene and the HP1-1 phenotype among leukemic patients. A higher frequency of haptoglobinemics (HP0) was observed among patients, in agreement with previous findings.<br>Os fenótipos de haptoglobina (HP) foram determinados em 188 pacientes brasileiros com os quatro principais tipos de leucemia (LMA, LMC, LLA e LLC) e comparados a 197 controles normais. A existência de associação entre a LMA, a LMC e a LLA e o gene HP-1 e o fenótipo HP 1-1, previamente sugerida na literatura, não foi confirmada no presente estudo. Uma prevalência maior de haptoglobinêmicos (HP0) foi verificada entre os pacientes, em concordância com estudos prévios

The –(α)5.2 deletion detected in a uruguayan family: first case report in the americas

In Uruguay, -thalassemia (-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for -thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -()(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an -thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -()(5.2) deletion in heterozygous state. We report here the presence of the -()(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR404289292COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP050/20132014/00984-