Research Article

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10/20/2014
Folic acid; Neural tube defect; Registry; Spina bifida; Turkey

Neural tube defects (NTD) are among the most common congenital abnormalities, with an incidence of 3 per 1000 live births in Turkey. In a study of major congenital abnormalities in the city of Denizli, Turkey, abnormalities of the central nervous system are particularly common (31.1%). The objective of this study was to develop a registry of cases with NTDs in Denizli. Cases that had been ... more

A.G. Tomatir; K. Vural; I. Acikbas; B. Akdag
10/25/2011
Congenital heart defect; Folic acid; Homocysteine; Methionine synthase reductase; Polymorphisms

Congenital heart defects (CHDs) are the most common birth defects; genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether two polymorphisms (A66G and C524T) of the MTRR gene are associated with ... more

W. Zeng; L. Liu; Y. Tong; H.M. Liu; L. Dai; M. Mao
03/26/2014
bifida; Diabetes; Folic acid; MTHFR; Neural tube defects

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were ... more

N.M. Cadenas-Benitez; F. Yanes-Sosa; A. Gonzalez-Meneses; L. Cerrillos; D. Acosta; J.M. Praena-Fernandez; O. Neth; G. de Terreros; P. Ybot-González
01/03/2014
Differentially expressed genes; Endothelial progenitor cells; Folic acid; Immune response; Type 1 diabetes mellitus

We investigated the effects of type 1 diabetes mellitus (T1DM) on endothelial progenitor cells (EPCs) at the molecular level and assessed the therapeutic potential of folic acid (FA) in DM. We downloaded the gene expression profile of the EPCs from T1DM patients before and after treatment with FA and from healthy controls. We identified the differentially expressed genes (DEGs) in the ... more

D.N. Fang; X.D. He; X.H. Li; H. Jia; P.Y. Li; Q. Lu; Z. Quan; Q.L. Wang
02/02/2015
Folate metabolism; Folic acid; Preterm birth; Single nucleotide polymorphism

We investigated the association between 12 single nucleotide polymorphisms (SNPs) in 11 genes involved in folate metabolic and preterm birth. A subset of SNPs selected from 11 genes/loci involved in the folic acid metabolism pathway were subjected to SNaPshot analysis in a case-control study. Twelve SNPs (CBS-C699T, DHFR-c594+59del19, GST01-C428T, MTHFD- ... more

B.J. Wang; M.J. Liu; Y. Wang; J.R. Dai; J.Y. Tao; S.N. Wang; N. Zhong; Y. Chen
10/19/2015
Cleft lip; Cleft palate; Family-based association test; WNT3

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. Several WNT genes are involved in craniofacial embryogenesis, and therefore may play an important role in the etiology of NSCL/P. Two SNPs (rs3809857 and rs9890413) in the WNT3 gene were subjected to case-control and case-parent analysis by polymerase chain reaction-restriction ... more

Y.P. Lu; W.T. Han; Q. Liu; J.X. Li; Z.J. Li; M. Jiang; W. Xu
04/14/2009
Genetic diversity; Malus; Random amplified polymorphic DNA; Rootstocks; Turkey; UPOV

Two local (Vezir-1 and Vezir-2) and two standard (M9 and MM106) clonal apple rootstocks were compared using both morphological and molecular markers. International Union for the Protection of New Varieties of Plants criteria were used for morphological evaluation, which did not clearly separate these rootstocks. We tested 47 random decamer primers for random amplified polymorphic DNA analysis ... more

A. Koc; M. Akbulut; E. Orhan; Z. Celik; S. Bilgener; S. Ercisli
12/08/2011
FMF; Haplotype; MDR1; Polymorphism; Turkey

The multidrug resistance (MDR1) gene encodes a P-glycoprotein that plays a key role in drug bioavailability and response to drugs in different human populations. More than 50 SNPs have been described for the MDR1 gene. Familial Mediterranean fever (FMF) is considered an autosomal recessive hereditary disease, associated with a single gene named the Mediterranean fever gene (MEFV). However ... more

A. Rüstemoglu; G. Gümüş-Akay; S. Yigit; T. Tasliyurt
06/11/2010
Chromosomal abnormalities; Cytogenetic; Genetic counseling; Turkey

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative ... more

M. Balkan; H. Akbas; H. İsi; H. İsi; D. Oral; A. Turkyılmaz; S. Kalkanli; S. Simsek; M. Fidanboy; M.N. Alp; A. Gedik; T. Budak
06/15/2010
Chicken; Cross-species amplification; Grey partridge; Microsatellite markers; Turkey

We used the partially sequenced genomes of the turkey and chicken to find a large number of microsatellite markers. We then characterized 10 polymorphic microsatellite markers developed by cross-species amplification from economically and ecologically important birds to various European sub-species of the grey partridge. Even though we used cross-species amplification, a high degree of ... more

N. Bech; C. Novoa; J.F. Allienne; J. Boissier

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