Research Article

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10/29/2013
Folate; Glioma; MGMT; MTHFR; Polymorphisms

Hypomethylation of the O6-methylguanine-DNA-methyltransferase (MGMT) promoter in glioma cells has been associated with temozolomide resistance. S-adenosylmethionine (SAM), which is produced during folate metabolism, is the main source of methyl groups during DNA methylation. As a key enzyme during folate metabolism, polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) may ... more

N. Liu; J. Jiang; Y.J. Song; S.G. Zhao; Z.G. Tong; H.S. Song; H. Wu; J.Y. Zhu; Y.H. Gu; Y. Sun; W. Hua; J.P. Qi
10/13/2009
Buccal cells; Down syndrome; genomic instability; Micronucleus

Down syndrome has been linked to premature aging and genomic instability. We examined the frequency of micronucleus (MN) and binucleated cells in the oral mucosa of Down syndrome patients and healthy controls matched by age and gender, addressing the effect of age and family income. Down syndrome individuals had an increased number of MN (14.30 ± 9.35 vs 4.03 ± 1.71; P 0.001) ... more

F.L.S. Ferreira; D. Prá; M.G. Martino-Roth; G.L. Garcias
01/22/2008
Down syndrome; Genetic polymorphism; Nondisjunction; Trisomy 21

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 mothers who ... more

J.M. Biselli; E.M. Goloni-Bertollo; B.L. Zampieri; R. Haddad; M.N. Eberlin; E.C. Pavarino-Bertelli
12/19/2012
Denizli; Down syndrome; Prevalence; Trisomy 21; Turkey

Down syndrome (DS) is the most frequent chromosome abnormality among live births. Its prevalence increases with maternal age, and can be diagnosed by antenatal screening. We examined prevalence variations of DS in Denizli, Turkey, through a retrospective study. Sixteen years of survey data were retrieved from the two main state hospital registries from records between 1994 and 2010. We ... more

I. Acikbas; A.G. Tomatir; B. Akdag; A. Köksal
03/06/2015
Chromosome 21; Down syndrome; Han population; Quantitative fluorescence polymerase chain reaction; Short tandem repeats; Southeast China

Short tandem repeats (STRs) are highly polymorphic sequences and have been extensively used as genetic markers in mapping studies, disease diagnosis, and human identity testing. In this study, 11 STR markers on chromosome 21, including D21S1432, D21S11, D21S1246, D21S1412, D21S1437, D21S1442, D21S2039, D21S1270, D21S1435, D21S1409, and D21S1446, were analyzed in 740 unrelated Han ... more

Y.N. Zhu; S.M. Lu; M. Wang; F.X. Shen; Y. Chen; J.J. Hu
10/31/2014
Breast cancer; Folate; MTHFR; Polymorphism; Vitamin

We investigated the association between dietary intake of folate, vitamin B6, and the 5,10-methylenetetrahydrofolate reductase (MTHFR) genotype with breast cancer. A matched case-control study was conducted, and 413 patients with newly diagnosed and histologically confirmed breast cancer and 436 controls were recruited. Folate intake, vitamin B6, and vitamin B12 levels were ... more

J.M. He; Y.D. Pu; Y.J. Wu; R. Qin; Q.J. Zhang; Y.S. Sun; W.W. Zheng; L.P. Chen
07/24/2014
Breast cancer; Folate; MTHFR; Polymorphism

We conducted a hospital-based case-control study to investigate the associations of dietary intake of folate and MTHFR C677T and A1298C polymorphisms with breast cancer in a Chinese population. A 1:1-matched case-control study was conducted. Two hundred and thirty patients who were newly diagnosed and histologically confirmed breast cancer and 230 controls were enrolled from Xinxiang ... more

Z.G. Wang; W. Cui; L.F. Yang; Y.Q. Zhu; W.H. Wei
12/21/2005
Breast cancer; Polymorphisms; RAD51-G135C; XPD-Lys751Gln; XRCC1-Arg399Gln; XRCC3-Thr241Met

Several studies have reported that the genes involved in DNA repair and in the maintenance of genome integrity play a crucial role in protecting against mutations that lead to cancer. Epidemiologic evidence has shown that the inheritance of genetic variants at one or more loci results in a reduced DNA repair capacity and in an increased risk of cancer. Polymorphisms have been ... more

R.Mucha Dufloth; S. Costa; F. Schmitt; L.Carlos Zeferino
04/13/2005
DNA; Minisequencing; Multiplex; Polymorphisms; Single nucleotide polymorphisms

Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research laboratories. Minisequencing meets the latter requirements. It is ... more

C.M.B. Carvalho; S.D.J. Pena
12/01/2009
Childhood acute lymphoblastic leukemia; Haplotypes; Mexicans; Polymorphisms; XRCC1

We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. All of them were genotyped for these polymorphisms, using polymerase chain reaction. No significant differences in allele and ... more

J.P. Meza-Espinoza; V. Peralta-Leal; M. Gutierrez-Angulo; N. Macias-Gomez; M.L. Ayala-Madrigal; P. Barros-Nuñez; J. Duran-Gonzalez; E. Leal-Ugarte

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