Research Article

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09/23/2002
Molecular diagnosis; Turner syndrome; X-Chromosome methylation

Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclease, to induce the cleavage of non-methylated DNA in ... more

C.Alberto Longui; M.Neves Rocha; L.Carla Albu Martinho; G.Gir Gomes; R.Eustachio de Miranda; T.Alves de S. Lima; M.Barbosa Melo; O. Monte
10/28/2008
17p11.2-p12 duplication; Brazilian population; Charcot-Marie-Tooth 1A; Molecular diagnosis; Short tandem repeat markers

Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using ... more

C.O. Possamai; F.M. Carvalho; M.F.C. Silva; E.V. Wolfgramm; M.P.N. Sartori; F.S.V. Malta; V.P. Ribeiro; V.P. Spina; K.B. Gomes; A.C.S. Ferreira; I.D. Louro
01/22/2008
Androgen receptor; Molecular diagnosis; Short stature; Turner syndrome

Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and ... more

C.C. Figueiredo; C. Kochi; C.A. Longui; M.N. Rocha; F. Richeti; N.M.A. Evangelista; L.E.P. Calliari; O. Monte
01/18/2011
ABC transporters; ABCD1 gene; Addison’s disease; Adrenoleukodystrophy; Molecular diagnosis; X-linked

Adrenoleukodystrophy is a neurodegenerative X-linked re­cessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison’s disease). ... more

E.R. Valadares; A.L.C. Trindade; L.R. Oliveira; A.L.B. Godard; R.R. Arantes; M.V. Daker; B.M. Viana; V.G. Haase; L.B. Jardim; G.C. Lopes
10/13/2010
IHHNV; Litopenaeus vannamei; Molecular diagnosis; RT-PCR; Shrimp aquaculture; Shrimp virus

The Pacific whiteleg shrimp Litopenaeus vannamei (Penaeidae) is one of the most important cultivated species in world aquaculture. In Brazil, the northeastern states are home to the main shrimp producers. As shrimp aquaculture has expanded and intensified, diseases have progressively become one of the most serious threats to this industry. Infectious hypodermal and hematopoietic ... more

M.A. Teixeira; J.E.F. Cruz; P.R.N. Vieira; I.R.C. Branco; F.H.F. Costa; G. Rádis-Baptista
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FMF; MEFV gene; Molecular diagnosis; Mutation

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 ... more

A.G. Zamani; A. Acar; M.S. Yildirim
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Fragile X syndrome; Mental disability; Molecular diagnosis; Northeast Brazil

The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel­lectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non ... more

M.T.M. Viveiros; M.D.C. Santos; J.M.Dos Santos; D.M. Viveiros; M.R.M. Cavalcante; A.J.M. Caldas; M.M.G. Pimentel
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Dengue glycoprotein E; Flavivirus; Ionic strength; Molecular simulation; Unprotonated histidine residues

The surface of the dengue virus is composed of 180 copies of a multifunctional envelope glycoprotein that acts at several stages of viral infection. When the virus is in the endosome, these glycoproteins undergo major conformational rearrangements owing to the protonation of histidine side chains. This protonation allows for the formation of trimers, thereby triggering fusion between the ... more

L. Degrève; C.A. Fuzo
11/25/2015
CK19 mRNA; KS1/4 mRNA; LUNX mRNA; Micrometastases; Non-small cell lung cancer; RT-PCR

The expression of CK19, LUNX, and KS1/4 mRNA biomarkers was detected in the peripheral blood of non-small cell lung cancer (NSCLC) patients to investigate the feasibility of indicating lung cancer micrometastases. Micrometastases were identified in the peripheral blood of 32 NSCLC patients, 15 benign pulmonary disease (BPD) patients, and 10 healthy volunteers by ... more

L. Yan; Y. Yao; L.H. Wang; M.L. Wang; X.H. Fu
11/23/2015
Adenocarcinoma; Colorectal cancer; GA733 family; RT-PCR

GA733-1/-2/-3 genes have been detected in various types of cancer, although their role has not been fully clarified. GA733-2 and GA733-1 have been correlated with lymph node metastases in laryngeal cancer and liver metastases, respectively. Only a few studies have elucidated the mechanisms regulating GA733-1/-2 expression and their effect on colorectal cancer. ... more

I. Mamaloudis; D. Zacharoulis; M. Samara; G. Papadopoulos; S. Samara; G. Koukoulis; C. Chatzitheofilou; P. Kollia

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