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Genetic Polymorphism

Cytogenomics   Research Article

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

Authors: J.M. Biselli, E.M. Goloni-Bertollo, B.L. Zampieri, R. Haddad, M.N. Eberlin and E.C. Pavarino-Bertelli

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194.. Read More»

Genet. Mol. Res. 7(1):
vol7-1gmr388
DOI:
10.4238/vol7-1gmr388
Animal Genetics   Research Article

A novel SNP of the C/EBP?± gene associated with superior meat quality in indigenous Chinese cattle

Authors: H. Wang, L.S. Zan, H.B. Wang and F.B. Song

CCAAT/enhancer-binding protein alpha (C/EBPa) is an essential transcriptional factor regulating the differentiation of adipocytes. We report a novel single nucleotide polymorphism (C271A) of the C/EBPa gene in six indigenous Chinese cattle breeds using PCR-SSCP and DNA sequencing methods. Allele frequencies were investigated and evaluated by the χ2 te.. Read More»

Genet. Mol. Res. 10(3):
vol10-3gmr1032
DOI:
10.4238/vol10-3gmr1032
Medical Genetics   Research Article

ABO genotyping in leukemia patients reveals new ABO variant alleles

Authors: M.C.Z. Novaretti, A.E. Domingues, R. Manhani, E.M. Pinto, P.E. Dorlhiac-Llacer and D.A.F. Chamone

The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the .. Read More»

Genet. Mol. Res. 7(1):
vol7-1gmr401
DOI:
10.4238/vol7-1gmr401
Human Genetics   Research Article

Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?

Authors: M. Aksoy, H. Uygun, O. Baspinar, S. Demiryurek, S. Oztuzcu,B. Cengiz, A. Irdem and N.C. Araz

Rho/Rho-kinase pathway plays a critical role in the regulation of cellular functions such as proliferation and migration. One of the possible theories of the development of ventricular septal defects is cell migration disorder. The aim of this study was to analyze the genotype distributions and allele frequencies for the ROCK2 gene Thr431Asn polymorphisms.. Read More»

Genet. Mol. Res. 13(1):
Human Genetics   Research Article

The mutation G298Aâ??Ala100Thr on the coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians

Authors: Angela Cristina Estalote, Rodrigo Proto-Siqueira, Wilson Ara?ºjo Da Silva Jr., Marco Antonio Zago and Marcos Palatnik

Ala100Thr has been suggested to be a Caucasian genetic marker on the FY*B allele. As the Brazilian population has arisen from miscegenation among Portuguese, Africans, and Indians, this mutation could possibly be found in Euro- and Afro-Brazilians, or in Brazilian Indians. Fifty-three related individuals and a random sample of.. Read More»

Genet. Mol. Res. 4(2):
Animal Genetics   Research Article

Development of novel polymorphic microsatellite markers for the silver fox (Vulpes vulpes)

Authors: S.Q. Yan, C.Y. Bai, S.M. Qi, Y.M. Li, W.J. Li and J.H. Sun

The silver fox (Vulpes vulpes), a coat color variant of the red fox, is one of the most important fur-bearing animals. To date, development of microsatellite loci for the silver fox has been limited and mainly based on cross-amplification by using canine SSR primers. In this study, 28 polymorphic microsatellite markers were isolated and identified for sil.. Read More»

Genet. Mol. Res. 14(2):
2015.June.1.6
DOI:
10.4238/2015.June.1.6
Plant Genetics   Research Article

Association between ACP1 genetic polymorphism and favism

Authors: V. Polzonetti, V. Passini and N. Lucarini

An association between favism (a hemolytic reaction to consumption of fava beans), glucose-6-phosphate dehydrogenase deficiency (G6PD-) and acid phosphatase locus 1 (ACP1) phenotypes has been reported; the frequency of carriers of the pa and pc ACP1 alleles was found to be significantly higher in G6PD- individuals showing favi.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1062
DOI:
10.4238/vol10-2gmr1062
Human Genetics   Research Article

Association of variable number of tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in Malaysian patients

Authors: R. Vasudevan, M.N. Norhasniza and I. Patimah

Variable number of tandem repeats (VNTR) polymorphism in the interleukin 4 (IL-4) gene has been associated with end-stage renal disease (ESRD) subjects in many different populations, although with conflicting results. We determined the 70 bp of VNTR polymorphism at intron 3 of the IL-4 gene in Malaysian ESRD subjects. Buccal c.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1066
DOI:
10.4238/vol10-2gmr1066
Medical Genetics   Research Article

Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1?² gene and prostate cancer: a systematic review and meta-analysis

Authors: Y.Z. Xiang, S.B. Jiang, J. Zhao, H. Xiong, Z.L. Cui, G.B. Li and X.B. Jin

Polymorphism 17q12 rs4430796 within HNF1β is a genetic variant associated with both diabetes mellitus and prostate cancer, but findings on the correlations of rs4430796 with prostate cancer risk specifically are not in agreement, especially among diverse populations. To shed some light on the contradictory findin.. Read More»

Genet. Mol. Res. 13(3):
2014.August.28.3
DOI:
10.4238/2014.August.28.3