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Human Genetics

Human Genetics   Research Article

Protein families, natural history and biotechnological aspects of spider silk

Authors: D. Bittencourt, P.F. Oliveira, F. Prosdocimi and E.L. Rech

Spiders are exceptionally diverse and abundant organisms in terrestrial ecosystems and their evolutionary success is certainly related to their capacity to produce different types of silks during their life cycle, making a specialized use on each of them. Presenting particularly tandemly arranged amino acid repeats, silk proteins (spidroins) have mechanic.. Read More»

Genet. Mol. Res. 11(3):
2012.August.13.10
DOI:
10.4238/2012.August.13.10
Human Genetics   Research Article

Meta-analysis of the relationship between XRCC3 T241M polymorphism and colorectal cancer susceptibility

Authors: L.Z. Zhang, Y.S. Li and H.Z. Liu

Numerous studies have evaluated the relationship between the T241M polymorphism of the X-ray repair cross-complementing group 3 (XRCC3) gene and colorectal cancer (CRC) risk. However, the specific relationship remains controversial. We conducted meta-analysis to investigate the relationship between the XRCC3 .. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.48
DOI:
10.4238/2015.November.18.48
Human Genetics   Research Article

Study of PIK3CA, BRAF, and KRAS mutations in breast carcinomas among Chinese women in Qinghai

Authors: Y.L. Wang, X. Dai, Y.D. Li, R.X. Cheng, B. Deng, X.X. Geng and H.J. Zhang

Phosphatidylinositol-3-OH kinase and RAS-activated signaling pathways play an important role in tumor formation. Abnormalities in relevant genes play essential roles in the occurrence and development of many human cancers. Studies of breast cancer have mainly focused on the women in western countries, but few studies have exam.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.49
DOI:
10.4238/2015.November.18.49
Human Genetics   Research Article

Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Authors: L.S. Abreu, M.S. Brassesco, M.L.C. Moreira, J.M. Pina-Neto

We report two similarly affected cousins (children of monozygotic twin sisters) with phenotypic features consistent with 9p deletion syndrome, including dysmorphic craniofacial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures and long philtrum), intellectual disability and disorders of sex devel.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.9.16
DOI:
http://dx.doi.org/10.4238/2014.June.9.16
Human Genetics   Research Article

Molecular diversity and population structure of the forage grass Hemarthria compressa (Poaceae) in south China based on SRAP markers

Authors: L.-K. Huang, X.-Q. Zhang, W.-G. Xie, J. Zhang, L. Cheng and H.D. Yan

Hemarthria compressa is one of the most important and widely utilized forage crops in south China, owing to its high forage yield and capability of adaptation to hot and humid conditions. We examined the population structure and genetic variation within and among 12 populations of H. compressa in south China using sequence-related amplified polymorphism (.. Read More»

Genet. Mol. Res. 11(3):
2012.May.24.3
DOI:
10.4238/2012.May.24.3
Human Genetics   Research Article

Sex chromosome differentiation in Belostoma (Insecta: Heteroptera: Belostomatidae)

Authors: V.B. Bardella, A.L. Dias, L. Giuliano-Caetano, J.R.I. Ribeiro and R. Da Rosa

Belostoma, a genus of the family Belostomatidae, includes species of great ecological importance as biocontrol agents. Few species of these species have been the subject of cytogenetic analyses. Karyotypic evolution in this genus involves agmatoploidy and simploidy; there are also different sex chromosome systems. We examined two Belostoma species (B. dil.. Read More»

Genet. Mol. Res. 11(3):
2012.May.21.2
DOI:
10.4238/2012.May.21.2
Human Genetics   Research Article

Trace samples of human blood in mosquitoes as a forensic investigation tool

Authors: K.C.N. Rab�ªlo, C.M.R. Albuquerque, V.B. Tavares, S.M. Santos, C.A. Souza, T.C. Oliveira, N.C.L. Oliveira and S. Crovella

Investigations of any type of crime invariably starts at the crime scene by collecting evidence. Thus, the purpose of this research was to collect and analyze an entomological trace from an environment that is similar to those of indoor crime scenes. Hematophagous mosquitoes were collected from two residential units; saliva of.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.50
DOI:
10.4238/2015.November.18.50
Human Genetics   Original Articles

Correlation of Y-chromosome multiple segmental deletions and chromosomal anomalies in non-obstructive azoospermic males from northeastern China

Authors: R.-L. Dai, R.-X. Wang, J.-L. Jin, G.-N. Niu, J.-Y. Lee, S.-B. Li and R.-Z. Liu

We investigated the frequency and types of Y-chromosome microdeletions and chromosomal anomalies in non-obstructive azoospermic and severely oligozoospermic infertile males in northeastern China. The sample consisted of 519 infertile males (456 azoospermic, 63 severely oligozoospermic). PCR assays for Y-chromosome microdeletions and chromosome analysis we.. Read More»

Genet. Mol. Res. 11(3):
2012.May.10.3
DOI:
10.4238/2012.May.10.3
Human Genetics   Research Article

HIF-2�± as a prognostic marker for breast cancer progression and patient survival

Authors: H.X. Wang, C.Qin, F.Y. Han, X.H. Wang and N. Li

Malignant cells show increased invasion potency in vitro and in vivo. This process is considered to be mediated by matrix-metalloproteases (MMPs). Hypoxia-inducible factor-2α (HIF-2α) may upregulate MMP-2 expression; however, little is known about the correlation between HIF-2α and MMP-2 expressions in breast.. Read More»

Genet. Mol. Res. 13(2):
2014.January.22.6
DOI:
10.4238/2014.January.22.6
Human Genetics   Research Article

Nine polymorphic STR loci in the HLA region in the Shaanxi Han population of China

Authors: H.B. Zhang, S.G. Wei, B. Yu, L. Li and J.H. Lai

A large number of microsatellite genetic markers have been identified in the human leukocyte antigen (HLA) region. We investigated genetic polymorphism of the nine short tandem repeat (STR) loci (D6S276, MOGCA, D6S265, MIB, D6S273, G51152, TAP1CA, RING3CA, and D6S291) in the HLA region in the Shaanxi Han population. Using a fluorescence-labeled multiplex-.. Read More»

Genet. Mol. Res. 11(3):
2012.July.10.8
DOI:
10.4238/2012.July.10.8