Diagnosis
Presence of Mycobacterium leprae DNA and PGL-1 antigen in household contacts of leprosy patients from a hyperendemic area in Brazil
Authors: J.D. Pinho1, P.M.S. Rivas1, M.B.P. Mendes1, R.E.P. Soares1, G.C. Costa2,F.R.F. Nascimento2, M.F.L. Paiva3, D.M.C. Aquino4, I.A. Figueireido5,A.M. Santos3 and S.R.F. Pereira1
Leprosy is a highly infectious disease endemic to underdeveloped countries. In Maranhão State, Northeastern Brazil, the hyperendemic rate of 56.11 cases/100,000 inhabitants increased the necessity of better understanding the epidemiological profile of this population, particularly regarding efficient methods for evaluating individuals res.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.10
- DOI:
- 10.4238/2015.November.18.10
Prenatal diagnosis of Chinese families with phenylketonuria
Authors: N. Liu1, X.D. Kong1, D.H. Zhao2, Q.H. Wu1, X.L. Li2, H.F. Guo4, L.X. Cui4,M. Jiang1 and H.R. Shi3
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons an.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.25
- DOI:
- 10.4238/2015.November.18.25
Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases
Authors: N. An, L.L. Li, R.X. Wang, L.L. Li, J.M. Yue and R.Z. Liu
The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal di.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.18
- DOI:
- 10.4238/2015.December.1.18
Genetic mechanism associated with congenital cytomegalovirus infection and analysis of effects of the infection on pregnancy outcome
Authors: J.M. Li, H.F. Zhang, X.Q. Zhang, G.L. Huang, H.Z. Huang and W.W. Yu
We aimed to compare the diagnostic value of various detection methods for cytomegalovirus (CMV) infection, to investigate the genetic mechanism associated with CMV infection in pregnant women, and to analyze the risk of sequelae development in fetuses with CMV infection. A total of 300 participants who had the same immunosuppressive regimen and received p.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.21
- DOI:
- 10.4238/2015.October.26.21
Correlation analysis of ultrasonic characteristics, pathological type, and molecular markers of thyroid nodules
Authors: J.J. Su, L.Z. Hui, C.J. Xi and G.Q. Su
The present study was conducted to analyze the correlation between ultrasonic characteristics, pathological type, and molecular markers of thyroid-tumor-related genes as well as to evaluate the diagnosis and prognosis of thyroid nodules. The acoustic characteristics of 130 thyroid specimens were detected. Pathological sectioning and immunohistochemical de.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.15.2
- DOI:
- 10.4238/2015.January.15.2
Isolation and molecular characterization of Leptospira borgpetersenii serovar Hardjo strain Hardjobovis in the urine of naturally infected cattle in Brazil
Authors: R.T. Chideroli1, U.P. Pereira2, D.D. Gon�§alves3, A.Y. Nakamura4, A.A. Alfieri5, A.F. Alfieri5 and J.C. Freitas1
Most epidemiologic studies on bovine leptospirosis are based on serological tests that use antibodies against several serotypes, including the serovar Hardjo, which is widespread and considered to be the most adapted to bovine hosts. However, using only serological studies is not sufficient to identify and distinguish species of leptospires. The aim of th.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15018473
- DOI:
- 10.4238/gmr.15018473
Combined detection of p53, p16, Rb, and EGFR mutations in lung cancer by suspension microarray
Authors: Y. Ye, D. Wang, C. Su, T. Rong and A. Guo
Mutations of some contributing factors (p53, p16, Rb, and EGFR) are believed to affect diagnosis and drug resistance of lung cancer. We evaluated the efficacy of a multimarker panel for molecular diagnosis of lung cancer, using a high-throughput suspension microarray. One hundred and twenty-five lung cancer specimens and 30 tu.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr627
- DOI:
- 10.4238/vol8-4gmr627
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract
Authors: X.D. Kong, N. Liu, H.R. Shi, J.M. Dong, Z.H. Zhao, J. Liu,J. Li-Ling and Y.X. Yang
Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.16
- DOI:
- 10.4238/2015.January.23.16
Clinical significance of neutrophil gelatinase-associated lipocalin (NGAL) in colorectal cancer: a meta-analysis
Authors: Y. Wang and T.T. Zeng
Growing evidence has implicated that neutrophil gelatinase-associated lipocalin (NGAL) plays a role in a spectrum of human cancers. Several observational studies from different parts of the world have been devoted to elucidate the clinical relationship between NGAL and colorectal cancer. This meta-analysis aimed to explore the.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.February.21.11
- DOI:
- 10.4238/2014.February.21.11
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome
Authors: L.Q. Wu, J.J. Hu, J.J. Xue and D.S. Liang
Congenital nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive disorder mainly caused by mutations in the NPHS1 gene; it is found at a relatively high frequency in Finns. We investigated the disease-causing mutations in a Chinese family with CNF and developed a prenatal genetic diagnosis for their lat.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.18.1
- DOI:
- 10.4238/2011.October.18.1