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Human Genetics

Human Genetics   Research Article

Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population.

Authors: S.H. Park, N. Chung, M.R. Lee, S.K. Yoo and Y.M. Choi

To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected hetero.. Read More»

Genet. Mol. Res. 11(1):
http://dx.doi.org/2012.January.9.1
DOI:
http://dx.doi.org/10.4238/2012.January.9.1
Human Genetics   Research Article

Inactivation of Rab23 inhibits the invasion and motility of pancreatic duct adenocarcinoma

Authors: Z.Z. Cai, L.B. Xu, J.L. Cai, J.S. Wang, B. Zhou and H. Hu

Pancreatic ductal adenocarcinoma (PDAC) is charac­terized by a poor prognosis and high mortality rate. In this study, we investigated the expression of Rab23 in non-tumor pancreatic tissues and PDACs via immunohistochemistry. Rab23 was found in 39 of 58 (67.2%) and in 11 of 30 (36.7%) of the PDAC and non-tumor pan­creatic tissue samples (P = 0.007.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.31
DOI:
http://dx.doi.org/10.4238/2015.March.30.31
Human Genetics   Research Article

Rifampicin resistance among multi-resistant MRSA clinical isolates from Chennai, India, and their molecular characterization

Authors: K. Murugan, K. Kavitha and S. Al-Sohaibani

High-level methicillin-resistant Staphylococcus aureus (MRSA) isolates show rapid evolution of rifampicin resistance, forcing reliance upon expensive and often inferior antibiotics to manage these infections. Accordingly, this study was conducted to: 1) evaluate the level of multidrug resistance among hospital-associated MRSA isolates from Chennai, India;.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.31.1
DOI:
http://dx.doi.org/10.4238/2015.March.31.1
Human Genetics   Research Article

Safety of recombinant human granulocyte-macrophage colony-stimulating factor in healing pediatric severe burns

Authors: Y.F. Chi, J.K. Chai, H.M. Luo, Q.X. Zhang and R. Feng

We explored the safety of recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) for healing burns in children. Subjects were randomly assigned to two groups: the experimental group received external rhGM-CSF gel, and the control group received rhGM-CSF gel matrix components, applied to the burn surface. Neither group was given any .. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.31.3
DOI:
http://dx.doi.org/10.4238/2015.March.31.3
Human Genetics   Research Article

A promoter trap vector for knocking out bovine myostatin gene with high targeting efficiency

Authors: L.H. Zhao, Y.H. Zhao, H. Liang, T. Yun, X.J. Han, M.L. Zhang, X. Zhou, D.X. Hou, R.F. Li and X.L. Li

With the development of gene targeting approaches, genomic mutation technologies in livestock animals such as gene trapping, zinc finger nucleases (ZFNs), transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats and their associated systems have been improved. Although ZFNs have been used for gene targ.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.31.5
DOI:
http://dx.doi.org/10.4238/2015.March.31.5
Human Genetics   Abstracts

Chagas disease and triatomine biology (Heteroptera, Triatominae), with emphasis on aspects of spermatogenesis

Authors: R. Silistino-Souza

A century after the discovery of Chagas disease, it is still one of the most important parasitic diseases affecting humans. The subfamily Triatominae is important in medical health, because these insects are vectors of Trypanosoma cruzi, the etiologic agent of Chagas disease. These insects are also of important cytological rel.. Read More»

Genet. Mol. Res. 10(3):
vol10-3ta039
DOI:
10.4238/vol10-3ta039
Human Genetics   Research Article

Association of T869C gene polymorphism of transforming growth factor-�²1 with low protein levels and anthropometric indices in osteopenia/osteoporosis postmenopausal Thai women

Authors: D. Utennam, A. Tungtrongchitr, B. Phonrat, R. Tungtrongchitr and S. Preutthipan

Osteoporosis is the most common metabolic bone disease; it is an important health problem among postmenopausal women. We evaluated the association of three polymorphisms, T869C, C-509T and G915C, of the TGF-β1 gene with bone mineral density (BMD) serum TGF-β1 levels in 278 postmenopausal female osteopenia/osteoporosi.. Read More»

Genet. Mol. Res. 11(1):
http://dx.doi.org/2012.January.13.2
DOI:
http://dx.doi.org/10.4238/2012.January.13.2
Human Genetics   Abstracts

Influence of �´�²-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the S�£o Paulo northwest population

Authors: G.C.S. Carrocini and C.R. Bonini-Domingos

Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in the β-globin family, which cause hereditary persistence of fetal hemoglobin (.. Read More»

Genet. Mol. Res. 10(3):
vol10-3ta035
DOI:
10.4238/vol10-3ta035
Human Genetics   Research Article

The monotony of transferrin and esterase electrophoretic patterns in pirarucu, Arapaima gigas (Schinz, 1822) from Santa Cruz Lake, Tef�© River, Amazonas, Brazil

Authors: A.S. Teixeira

Starch gel electrophoresis was used for examining the transferrin gene locus (Tf) and two esterase gene loci (Est-1 and Est-D1) of a pirarucu (Arapaima gigas) population sample collected from Santa Cruz Lake, Tefé River, Amazonas, Brazil. The Tf locus was tentatively classified as being polymorphic, showing two double-b.. Read More»

Genet. Mol. Res. 7(2):
vol7-2gmr425
DOI:
10.4238/vol7-2gmr425
Human Genetics   Research Article

Polymorphisms of the TIM-1 gene are associated with rheumatoid arthritis in the Chinese Hui minority ethnic population

Authors: J.R. Xu, Y. Yang, X.M. Liu, J.Y. Sun and Y.J. Wang

The T-cell immunoglobulin and mucin domain 1 (TIM-1) is known to be associated with susceptibility to rheumatoid arthritis (RA). We investigated the association of four single-nucleotide polymorphisms (SNPs) in the promoter region of the TIM-1 gene with susceptibility to RA in a Chinese Hui ethnic minority group. Using RFLP or.. Read More»

Genet. Mol. Res. 11(1):
http://dx.doi.org/2012.January.9.7
DOI:
http://dx.doi.org/10.4238/2012.January.9.7