Human Genetics

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Authors: A.G. Zamani, A. Acar and M.S. Yildirim

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics ce.. Read More»

Genet. Mol. Res. 12(4):

2013.October.29.9

DOI:

10.4238/2013.October.29.9

In vitro effects of Ala16Val manganese superoxide dismutase gene polymorphism on human white blood cells exposed to methylmercury

Authors: T.D. Algarve1, F. Barbisan2, E.E. Ribeiro3, M.M.M.F. Duarte4, M.F. M�¢nica-Cattani1, C.P. Mostardeiro2, A.F. Lenz1 and I.B.M. da Cruz1,2,4

Environmental contamination by methylmercury (MeHg) is an enormous public health problem in world regions such as Amazonia. MeHg toxic effects seem to be influenced by environmental and genetic factors. However, few studies have evaluated the genetic influences of MeHg toxicity in humans. Therefore, the aim of this study was to evaluate the genetic influe.. Read More»

Genet. Mol. Res. 12(4):

2013.October.29.7

DOI:

10.4238/2013.October.29.7

Genetic composition of a Brazilian population: the footprint of the Gold Cycle

Authors: E.M. Queiroz1, A.M. Santos2, I.M. Castro2, G.L.L. Machado-Coelho3, A.P.C. C�¢ndido4, T.M. Leite5, R.W. Pereira5 and R.N. Freitas1

Ancestry-informative markers (AIMs) are powerful tools for inferring the genetic composition of admixed populations. In this study, we determined the genetic ancestry of the Ouro Preto (Brazil) population and evaluated the association between ancestry and self-reported skin color. The genetic ancestry of 189 children and adolescents was estimated by genot.. Read More»

Genet. Mol. Res. 12(4):

2013.October.29.6

DOI:

10.4238/2013.October.29.6

Infertility caused by male partners with genetic defects in Sichuan Province of China

Authors: Q. Quan, T.J. Li, X.P. Ding, J. Wei, L.X. Li and L. Fu

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was .. Read More»

Genet. Mol. Res. 12(4):

2013.December.11.2

DOI:

10.4238/2013.December.11.2

Random regression models using Legendre orthogonal polynomials to evaluate the milk production of Alpine goats

Authors: F.G. Silva, R.A. Torres, L.F. Brito, R.F. Euclydes, A.L.P. Melo,N.O. Souza1, J.I. Ribeiro Jr. and M.T. Rodrigues

The objective of this study was to identify the best random regression model using Legendre orthogonal polynomials to evaluate Alpine goats genetically and to estimate the parameters for test day milk yield. On the test day, we analyzed 20,710 records of milk yield of 667 goats from the Goat Sector of the Universidade Federal de Viçosa. The evaluat.. Read More»

Genet. Mol. Res. 12(4):

2013.December.11.1

DOI:

10.4238/2013.December.11.1

Development and characterization of novel microsatellite markers in the rock bream fish Oplegnathus fasciatus

Authors: X.X. Sun, D.D. Xu, B. Lou, S.L. Li, W. Zhan, Y.R. Zhang and J. Xin

The rock bream fish Oplegnathus fasciatus is one of the most popular aquaculture species in China. In the present study, 15 novel polymorphic microsatellite loci were isolated and characterized from a wild population of O. fasciatus from the Zhoushan coast of China. The number of alleles per polymorphic locus ranged from 4 to 9 in a sample of 30 individua.. Read More»

Genet. Mol. Res. 12(4):

2013.December.10.7

DOI:

10.4238/2013.December.10.7

Differences in frequencies of UGT1A9, 1A7, and 1A1 genetic polymorphisms in Chinese Tibetan versus Han Chinese populations

Authors: W. Yan, Y.W. Wang, F.F. Yang, M. Wang, X.Q. Zhang, J. Dong,E. Chen and J. Yang

As part of a series of pharmacogenomics studies of the Chinese population, we investigated genetic polymorphisms of some UGT1A regions. The three genes that were analyzed were UGT1A9, 1A7, and 1A1; we sequenced their exons, together with promoters, surrounding introns and 3'-untranslated regions (3êÂ?Â?UTR) in 100 unrelated-healthy Chinese Tibetan individua.. Read More»

Genet. Mol. Res. 12(4):

2013.December.10.6

DOI:

10.4238/2013.December.10.6

Significant association between lower pulse pressure and increasing levels of a novel type of phospholipid

Authors: C.S. Yao, Q.Z. Wu, H.X. Xu, F. Liu, L.G. Chang, L.C. Song, L.S. Gao and X.L. Meng

The aim of this study was to analyze the association between pulse pressure and a novel type of phospholipid with solubility similar to that of lysophosphatidic acid (LPA), designated as AP, which was reported to be elevated during ischemia. In this cross-sectional study, 416 hypertensive patients and 252 controls aged between.. Read More»

Genet. Mol. Res. 13(2):

2014.February.21.16

DOI:

10.4238/2014.February.21.16

Plasma resistin, associated with single nucleotide polymorphism -420, is correlated with C-reactive protein in Chinese Han patients with spontaneous basal ganglia hemorrhage

Authors: X.-Q. Dong, Q. Du, W.-H. Yu, Z.-Y. Zhang, Q. Zhu, Z.-H. Che, H. Wang, J. Chen, S.-B. Yang and J.-F. Wen

We examined a possible relationship -420C>G SNP of the resistin gene with plasma resistin and C-reactive protein concentrations in intracerebral hemorrhage. Three hundred and forty-four Chinese Han patients with intracerebral hemorrhage and 344 age- and gender-matched healthy controls were included in our study. Plasma resi.. Read More»

Genet. Mol. Res. 11(3):

2012.July.19.4

DOI:

10.4238/2012.July.19.4

Clarification of data for a meta-analysis: p53 codon 72 polymorphism and prostate cancer risk

Authors: Y.-Y. Mi, L.-J. Zhu, X.-M. You and S. Wu

Genet. Mol. Res. 11(3):

2012.July.19.15

DOI:

10.4238/2012.July.19.15