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Human Genetics

Human Genetics   Research Article

Isolation and characterization of polymorphic DNA microsatellite loci for Anopheles triannulatus sensu lato (Diptera: Culicidae) and cross-amplification in congeneric species

Authors: P.F. Cruz, J.S. Batista, K.M. Formiga, M.S. Rafael, W.P. Tadei and J.M.M. Santos

Anopheles (Nyssorhynchus) triannulatus is a complex of 3 species. Thirteen polymorphic microsatellite loci were isolated and characterized in 20 to 25 individuals from Manaus (AM, Brazil). The number of alleles per locus varied from 3 to 10 (mean = 6.0). The observed heterozygosity ranged from 0.250 to 0.875 (mean = 0.680) and expected heterozygosity rang.. Read More»

Genet. Mol. Res. 12(3):
2013.March.13.11
DOI:
10.4238/2013.March.13.11
Human Genetics   Research Article

Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 polymorphisms and glioma risk

Authors: C.X. Zhou and J.H. Zhao

Several studies have examined the association between excision repair cross-complementation group 1 (ERCC1) C8092A and ERCC2 Lys751Gln polymorphisms and glioma risk, but the results have been inconclusive. We conducted a meta-analysis of 12 studies to determine the association between ERCC1 rs3212986 and ERCC2 rs13181 genes and glioma susceptibility. We s.. Read More»

Genet. Mol. Res. 14(1):
2015.March.31.17
DOI:
10.4238/2015.March.31.17
Human Genetics   Research Article

Altered expression of metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 in cervical disc herniation patients

Authors: H.M. Zhuang, G.T. Xu, S.F. Wen, Y.Y. Guo and Q. Huang

The aim of the current study was to examine matrix metalloproteinase-2 (MMP-2) and tissue inhibitor of metalloproteinase-2 (TIMP-2) expression in patients with cervical disc herniation (CDH). A total of 127 specimens from CDH patients undergoing posterior spinal surgery were obtained for the case group, which was divided into .. Read More»

Genet. Mol. Res. 15(2):
gmr.15027594
DOI:
10.4238/gmr.15027594
Human Genetics   Research Article

Comparative genome-wide gene expression analysis of rheumatoid arthritis and osteoarthritis

Authors: C.Q. Yi, C.H. Ma, Z.P. Xie, Y. Cao, G.Q. Zhang, X.K. Zhou and Z.Q. Liu

Both rheumatoid arthritis (RA) and osteoarthritis (OA) are complex diseases. Studies and treatment of RA and OA have mainly focused on individual factors. However, there is still no clear understanding of their causes and adequate treatment alternatives are still being sought. We applied gene set-enrichment analysis to microarray datasets of RA and OA to .. Read More»

Genet. Mol. Res. 12(3):
2013.March.11.3
DOI:
10.4238/2013.March.11.3
Human Genetics   Research Article

Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score

Authors: Y.Q. Chen, T. Li, W.Y. Guo, F.J. Su and Y.X. Zhang

The aim of this study was to identify disrupted pathways related to Down syndrome (DS), and DS-associated congenital heart defects (DS-CHD). The gene expression profile and pathway data of 10 human DS patients and 5 control samples in E-GEOD-1789 were recruited and analyzed by the individualized pathway aberrance score (iPAS) .. Read More»

Genet. Mol. Res. 15(2):
gmr.15027601
DOI:
10.4238/gmr.15027601
Human Genetics   Research Article

A rapid screening of ancestry for genetic association studies in an admixed population from Pernambuco, Brazil

Authors: A.V.C. Coelho, R.R. Moura, C.A.J. Cavalcanti, R.L. Guimar�£es,P. Sandrin-Garcia, S. Crovella and L.A.C. Brand�£o

Genetic association studies determine how genes influence traits. However, non-detected population substructure may bias the analysis, resulting in spurious results. One method to detect substructure is to genotype ancestry informative markers (AIMs) besides the candidate variants, quantifying how much ancestral populations contribute to the samples&rsquo.. Read More»

Genet. Mol. Res. 14(1):
Human Genetics   Research Article

New efficient DNA extraction method to access the microbiome of Ricinus communis seeds

Authors: C.D. Santos Jr., A.C.C. Dias, I.M.R. Amaral, A.M. Bonetti and T.A. Campos

Ricinus communis (castor bean) seeds are used to produce an alcohol-soluble oil that is used in more than 400 industrial processes. Despite its economic importance, there has been little research on the endophytic microbiota of castor bean seeds. This microbiota is important for plant metabolic processes and may have considerable biotechnological potentia.. Read More»

Genet. Mol. Res. 12(3):
2013.February.28.23
DOI:
10.4238/2013.February.28.23
Human Genetics   Research Article

Campomanesia adamantium extract induces DNA damage, apoptosis, and affects cyclophosphamide metabolism

Authors: M.D. Martello, N. David, R. Matuo, P.C. Carvalho, S.D. Navarro,A.C.D. Monreal, A.L. Cunha-Laura, C.A.L. Cardoso, C.A.L. Kassuya and R.J. Oliveira

Campomanesia adamantium (Cambess.) O. Berg. is originally from Brazil. Its leaves and fruits have medicinal properties such as anti-inflammatory, antidiarrheal and antiseptic properties. However, the mutagenic potential of this species has been reported in few studies. This study describes the mutagenic/antimutagenic, splenic .. Read More»

Genet. Mol. Res. 15(2):
gmr.15027678
DOI:
10.4238/gmr.15027678
Human Genetics   Research Article

Ring chromosome instability evaluation in six patients with autosomal rings

Authors: C.P. Sodr�©, R.S. Guilherme, V.F.A. Meloni, D. Brunoni, Y. Juliano, J.A.D. Andrade, S.I.N. Belangero, D.M. Christofolini, L.D. Kulikowski and M.I. Melaragno

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr707
DOI:
10.4238/vol9-1gmr707
Human Genetics   Research Article

Structure and immune expression analysis of hemoglobin genes from the blood clam Tegillarca granosa

Authors: Y.B. Bao, Q. Wang, X.M. Guo and Z.H. Lin

Hemoglobin (Hb) is the major protein component of erythrocytes in animals with red blood, although it can serve additional functions beyond the transport of oxygen. The blood clam (Tegillarca granosa) is one of the few mollusks that has Hb, although the structure and function of molluskan Hbs remain unclear. We characterized two unique and highly compartm.. Read More»

Genet. Mol. Res. 12(3):
2013.February.28.5
DOI:
10.4238/2013.February.28.5