Diagnosis
Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family
Authors: E.R. Valadares*, A.L.C. Trindade*, L.R. Oliveira, R.R. Arantes, M.V. Daker, B.M. Viana, V.G. Haase, L.B. Jardim, G.C. Lopes and A.L.B. Godard
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 .. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr975
- DOI:
- 10.4238/vol10-1gmr975
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype
Authors: K. Wang, Y.T. Li and M. Hou
Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for .. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027945
- DOI:
- 10.4238/gmr.15027945
Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses
Authors: I.N. Machado, J.K. Heinrich, R. Barini and C.F.A. Peralta
Congenital diaphragmatic hernia (CDH) is a phenotypically and genetically heterogeneous disorder, with a complex inheritance pattern. Structural abnormalities of almost all chromosomes have been described in association with CDH. We made a molecular analysis through array comparative genomic hybridization (array CGH) of a grou.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr1001
- DOI:
- 10.4238/vol10-1gmr1001
Isolation and analysis of cell-free fetal DNA from maternal peripheral blood in Chinese women
Authors: W.C. Yang, L. Zhu, Y.M. Qiu, B.X. Zhou, J.L. Cheng, C.L. Wei, H.C. Chen, L.Y. Li, X.D. Fu and J.J. Fu
Non-invasive prenatal diagnosis is used to detect the genetic material of the fetus by isolating the cell-free fetal DNA (cffDNA) from maternal peripheral blood. In order to establish an isolation method for cffDNA from maternal peripheral blood in Chinese women, the cffDNA was acquired with a two-step centrifugation using a QlAamp DNA Blood mini kit. The.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.22.34
- DOI:
- 10.4238/2015.December.22.34
Muscle pain, fever, cough, and progressive dyspnea in a woman with eosinophilic pneumonia
Authors: Z. Xu,Y. Fan,G.S. Wang and G.M. Wu
The diagnosis of eosinophilic pneumonia (EP) is rare and challenging. This condition is frequently misdiagnosed as pulmonary tuberculosis, lymphoma, schistosomiasis, Wegener’s granuloma, severe acute respiratory syndrome, or severe community-acquired pneumonia. Herein, we report a case in which computed tomography (CT)-guided percutaneous lung biops.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.28.1
- DOI:
- http://dx.doi.org/10.4238/2015.April.28.1
Detection of a mutation at codon 43 of the rpsL gene in Xanthomonas oryzae pv. oryzicola and X. oryzae pv. oryzae by PCR-RFLP
Authors: Y. Zhang, X. Yang, F.Y. Zhou, A.F. Zhang, X.F. Zhu, Y. Chen, M.G. Zhou and T.C. Gao
The aim of this study was to develop a method to detect a point mutation in the ribosomal S12 protein (rpsL) gene in streptomycin-resistant strains of Xanthomonas oryzae pv. oryzicola and X. oryzae pv. oryzae. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was developed to detect a point mutation in codon 43 of th.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.28.6
- DOI:
- 10.4238/2015.December.28.6
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration
Authors: Y.N. Zong and X.D. Kong
We investigated the genetic mutations involved in Wilson’s disease to improve prenatal genetic diagnosis and presymptomatic diagnosis. The polymerase chain reaction (PCR) was used to amplify the exons and exon-intron boundaries of the ATP7B gene in 35 Wilson’s disease pedigrees. The PCR products were further analyzed by Sanger sequencing. Pren.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.28.25
- DOI:
- 10.4238/2015.December.28.25
Correlation between hepatitis B virus DNA levels and diagnostic tests for HBsAg, HBeAg, and PreS1-Ag in chronic hepatitis B
Authors: X. Liu, J.M. Chen, J.L. Lou, Y.X. Huang, Y. Yan, G.Z. Sun and N. Li
he aim of this study was to investigate the diagnostic value of the serum markers HBsAg and HBeAg and PreS1 protein (PreS1-Ag) in quantifying the levels of hepatitis B virus (HBV) DNA in patients with chronic hepatitis B (CHB). One thousand CHB patients were recruited from Beijing You’an Hospital between June and Decembe.. Read More»
- Genet. Mol. Res. 15(2):
Circulating miR-125b as a biomarker of Ewing�s sarcoma in Chinese children
Authors: C.L. Nie, W.H. Ren, Y. Ma, J.S. Xi and B. Han
Previous studies indicated that microRNA-125b (miR-125b) has an important role in the progression of Ewing’s sarcoma (ES). The purpose of the current study was to examine expression changes of miR-125b in the serum of ES patients and evaluate if the expression level of miR-125b could serve as a new biomarker for ES. This study was performed on patie.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.29.12
- DOI:
- 10.4238/2015.December.29.12
Diagnosis of human visceral leishmaniasis by PCR using blood samples spotted on filter paper
Authors: Eduardo Sergio da Silva, C�©lia Maria Ferreira Gontijo,Raquel da Silva Pacheco and Reginaldo Pe�§anha Brazil
The polymerase chain reaction (PCR) is a simple, rapid procedure that has been adapted for the diagnosis of leishmaniasis. In the present study, 85 blood samples and seven bone marrow aspirates from 85 patients with clinical symptoms suggestive of visceral leishmaniasis from the metropolitan region of Belo Horizonte in the Bra.. Read More»
- Genet. Mol. Res. 3(2):