Diagnosis
Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population
Authors: J. Saberzadeh, M.R. Miri, M.B. Tabei, M. Dianatpour and M. Fardaei
Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049065
- DOI:
- 10.4238/gmr15049065
Expression and serological diagnosis of Mycobacterium tuberculosis CFP-10 and Rv2626c proteins
Authors: Z.Y. Zhu, D. Zhang, H.B. Wang, J.Z. Xiao, Y.F. Qiu, L. Yan, D. Chen, A.G. Liu and X. Yang
We constructed a Mycobacterium tuberculosis vector expressing CFP-10 and Rv2626c to examine the expression of these proteins in Escherichia coli as well as their immunoreactivity. The CFP-10 and Rv2626c genes were amplified from tuberculosis H37Rv genomic DNA using polymerase chain reaction. They were ligated.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.September.12.5
- DOI:
- 10.4238/2014.September.12.5
Prenatal diagnosis of a partial trisomy 13q (q14�qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization
Authors: I.N. Machado, J.K. Heinrich, C. Campanhol, R.M. Rodrigues-Peres, F.M. Oliveira and R. Barini
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and arra.. Read More»
- Genet. Mol. Res. 9(1):
- vol9-1gmr716
- DOI:
- 10.4238/vol9-1gmr716
A fast and simple method for the polymerase chain reaction-based sexing of livestock embryos
Authors: K.C.S. Tavares, I.S. Carneiro, D.B. Rios, C. Feltrin, A.K.C. Ribeiro, S. Gaud�ªncio-Neto, L.T. Martins, L.H. Aguiar, C.R. Lazzarotto, C.E.M. Calder�³n, F.E.M. Lopes, L.P.R. Teixeira, M. Bertolini and L.R. Bertolini
Embryo sexing is a powerful tool for livestock producers because it allows them to manage their breeding stocks more effectively. However, the cost of supplies and reagents, and the need for trained professionals to biopsy embryos by micromanipulation restrict the worldwide use of the technology to a limited number of speciali.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017476
- DOI:
- 10.4238/gmr.15017476
Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome
Authors: D.E.S. Leme, D.H. Souza, G. Mercado, E. Pastene, A. Dias and D. Moretti-Ferreira
Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis i.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.September.4.7
- DOI:
- 10.4238/2013.September.4.7
Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil
Authors: M.T.M. Viveiros, M.D.C. Santos, J.M. Dos Santos, D.M. Viveiros, M.R.M. Cavalcante, A.J.M. Caldas and M.M.G. Pimentel
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 fo.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.18.32
- DOI:
- 10.4238/2015.June.18.32
Diagnostic performance of anti-citrullinated protein/peptide antibodies in juvenile idiopathic arthritis
Authors: S.Y. Pang, H.Y. Liu, Y.J. Huang, Y.F. Liu, Y.M. Dai, P. Zeng and H.S. Zeng
The prevalence rates of anti-citrullinated protein/peptide antibodies (ACPAs) were investigated in a cohort of juvenile idiopathic arthritis (JIA) patients, and their diagnostic performances were compared. ACPAs, including anti-cyclic citrullinated peptide IgG (anti-CCP), anti-CCP IgG/IgA (anti-CCP3.1), citrullinated recombina.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028641
- DOI:
- 10.4238/gmr.15028641
Significance of Bcl10 gene mutations in the clinical diagnosis of MALT-type ocular adnexal lymphoma in the Chinese population
Authors: J. Zhu, R.L. Wei, Y.L. Pi and Q. Guo
We investigated the expression of Bcl10 gene mutations in mucosa-associated lymphoid tissue-type ocular adnexal lymphoma (OAL), atypical lymphoid hyperplasia (ALH), and reactive lymphoid hyperplasia (RLH) in the Chinese population and its role in clinical diagnosis and pathogenesis. Forty-three samples were collected during patient surgeries. Pathological.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.12.6
- DOI:
- 10.4238/2013.April.12.6
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients
Authors: F. Cal�¬, V. Chiavetta, A. Ragalmuto, M. Vinci, G. Ruggeri, P. Schinocca and V. Romano
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.12.4
- DOI:
- 10.4238/2013.April.12.4
Expression and diagnostic value of proteins in Mycobacterium tuberculosis
Authors: Z.Y. Zhu, Y. Liu, H.B. Wang, J.Z. Xiao, Y.F. Qiu, L. Yan, D. Chen, A.G. Liu and X. Yang
We constructed a prokaryotic expression vector expressing the Mycobacterium tuberculosis protein TB16.3, as well as 3 other proteins, including TB15.3, CFP-10, and Rv2626C, which were purified and analyzed for their effectiveness as detection antibodies. The TB16.3 genes of M. tuberculosis H37Rv geno.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.September.26.16
- DOI:
- 10.4238/2014.September.26.16