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Animal Genetics   Research Article

The correlation analysis of polymorphisms of Prion-Related Doppel (PRND) with prion (PRNP) alleles in Gansu Alpine Merino sheep

Authors: Yuan-zi Liu, Chun-lin Zhao, Yu-Ze Yang, Run Wu, Chuan Wang, Xue-Rui Wan1, Yan Wang

The interaction between the ovine prion protein gene (PRNP) and Doppel (PRND) gene polymorphisms is essential for understanding the role of prion proteins in scrapie. In this study, the blood genomic DNA samples of 111 Gansu Alpine Merino sheep were used to define the PRNP alleles and the haplotypes of PRND by PCR-SSCP (single.. Read More»

Genet. Mol. Res. 16(4):
gmr16039832
DOI:
10.4238/gmr16039832
Human Genetics   Research Article

Allele frequencies in Azuay Population in Ecuador

Authors: P.P. Orellana, C.F. Andrade, C.L. Arciniegas and G.C. Iannacone

One hundred and eighty-two samples of unrelated people who requested the paternity test at the Molecular Biology and Genetics Laboratory of the Catholic University of Cuenca-Ecuador in the province of Azuay were studied, except for the D1S1656 (180 samples) and SE33 (89 samples) markers. The STRs D22S1045, D3S1358, VWA, D16S53.. Read More»

Genet. Mol. Res. 16(3):
gmr16039797
DOI:
10.4238/gmr16039797
Bioinformatics   Research Article

Efficient detection of the V600E mutation of the BRAF gene in papillary thyroid carcinoma using multiplex allele-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography

Authors: R.X. Gong1, Y.P. Gong1, J. Yang1, T. Wei1, J. Li-Ling2,3 and J.Q. Zhu1

Mutations in the V-raf murine sarcoma viral oncogene homolog B1 gene (BRAF) play an important role in the pathogenesis of papillary thyroid cancer (PTC). In this study, a BRAF V600E mutation was detected in formalin-fixed and paraffin-embedded PTC samples using multiplex allele-specific polymerase chain reaction and denaturing high-performance liquid chro.. Read More»

Genet. Mol. Res. 12(4):
2013.October.24.11
DOI:
10.4238/2013.October.24.11
Human Genetics   Research Article

Association of the estrogen receptor-β gene RsaI and AluI polymorphisms with human idiopathic thin endometrium

Authors: A.W. Le, Z.H. Wang, R. Yuan, L.L. Shan, T.H. Xiao, R. Zhuo, Y. Shen

The aim of this study was to investigate the potential correlation between polymorphisms of the estrogen receptor (ER)-β gene (RsaI and AluI) and ethnic Han Chinese human idiopathic thin endometrium. A total of 120 patients with idiopathic thin endometrium and 120 sterility patients with normal endometrium thickness (cont.. Read More»

Genet. Mol. Res. 12(4):
2013.November.26.7
DOI:
10.4238/2013.November.26.7
Medical Genetics   Research Article

Analysis of an “off-ladder” allele at the Penta D short tandem repeat locus

Authors: Y.L. Yang, J.G. Wang, D.X. Wang, W.Y. Zhang, X.J. Liu, J. Cao and S.L. Yang

Kinship testing of a father and his son from Guangxi, China, the location of the Zhuang minority people, was performed using the PowerPlex® 18D System with a short tandem repeat typing kit. The results indicated that both the father and his son had an off-ladder allele at the Penta D locus, with a genetic size larger than .. Read More»

Genet. Mol. Res. 14(4):
2015.November.24.18
DOI:
10.4238/2015.November.24.18
Human Genetics   Research Article

Association between MYC rs9642880[T] allele and bladder cancer risk: a meta-analysis

Authors: Y. Zhao, J.G. Qi, N. Yang, Y.L. Lin, J. Liang and X. Zhu

A single nucleotide polymorphism of MYC rs9642880 (G>T) at the 8q24.1 locus is thought to be associated with bladder cancer risk based on the results of genome-wide association studies, but the results remain inconclusive. To assess the association between rs9642880[T] allele and bladder cancer risk, we performed this meta-analysis including 18 case-co.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.39
DOI:
10.4238/2015.November.18.39
Human Genetics   Research Article

MNS, Duffy, and Kell blood groups among the Uygur population of Xinjiang, China

Authors: G.Y. Lin, X.L. Du, J.J. Shan, Y.N. Zhang Y.Q. Zhang, Q.H. Wang

Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood grou.. Read More»

Genet. Mol. Res. 16(1):
gmr16019176
DOI:
10.4238/gmr16019176
Human Genetics   Research Article

Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant

Authors: O.F. Khabour K.H. Alzoubi S.I. Al-Azzam N.M. Mhaidat

The multidrug resistance gene (MDR1 or ABCB1) codes for P-glycoprotein, which plays an important role in regulating absorption, distribution, and elimination of drugs. We examined MDR1 gene variants in 100 unrelated subjects from various regions of Jordan. The MDR1 gene was scanned using direct sequencing. Six rare variants in MDR1 were detected, includin.. Read More»

Genet. Mol. Res. 12(1):
2013.March.13.9
DOI:
10.4238/2013.March.13.9
Human Genetics   Research Article

Intermediate alleles of Huntington’s disease HTT gene in different populations worldwide: a systematic review

Authors: T.A. Apolinário, C.L.A. Paiva and L.A. Agostinho

Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have m.. Read More»

Genet. Mol. Res. 16(2):
gmr16029648
DOI:
10.4238/gmr16029648
Human Genetics   Research Article

Development of a polymorphic short tandem repeat locus multiplex system for efficient human identification

Authors: R.G. Rodovalho, E.L. Rodrigues, G.S. Santos, L.M. Cavalcanti,P.R. Lima, A.G. Rodovalho, R.G. Vital, M.A.D. Gigonzac and A.D. da Cruz

This study aimed to develop a short tandem repeat (STR) multiplex system, made up of 22 highly informative STR loci, for application in forensic genetics. The system comprised 21 polymorphic autosomal loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA, D2S44.. Read More»

Genet. Mol. Res. 16(2):
gmr16029557
DOI:
10.4238/gmr16029557

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