Research Article

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03/15/2017
Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; Child; Child, Preschool; China; Duffy Blood-Group System; Female; Gene frequency; Genotype; Humans; Infant; Kell Blood-Group System; male; Middle Aged; MNSs Blood-Group System; Young Adult

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 groups for different ethnic groups or regions in China has been focused ... more

G.Y. Lin; X.L. Du; J.J. Shan; Y.N. Zhang; Y.Q. Zhang; Q.H. Wang
04/28/2017
Adolescent; Blood glucose; Case-control studies; Child; Female; Ghrelin; Humans; Insulin resistance; Lipoproteins; male; Obesity; Triglycerides

Childhood obesity is a serious public health concern condition, as excess body fat can negatively affect a child's health. Obestatin is a hormone that regulates body weight by suppressing appetite and reducing food intake; fasting obestatin level is negatively correlated with basal insulin level. This study aims to investigate the role of obestatin in insulin resistance. A total of 54 children ... more

M.Y. Zhang; F. Li; J.P. Wang
05/18/2017
Adolescent; Case-control studies; Child; Child, Preschool; Drug Resistant Epilepsy; Epilepsies, Myoclonic; Female; Humans; Infant; male; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Polymorphism, Single Nucleotide

Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of ... more

R.E. Jiménez-Arredondo; A.J.L. Brambila-Tapia; F.M. Mercado-Silva; M.T. Magaña-Torres; L.E. Figuera
06/29/2017
Adolescent; Adult; Anemia, Sickle Cell; Child; Child, Preschool; Female; Gene Deletion; Haplotypes; Hemoglobins; Humans; male; Middle Aged; Polymorphism, Genetic; Receptors, CCR5

Sickle cell disease shows several clinical manifestations in distinct levels of severity. This heterogeneity is due to the haplotype variability associated with the HbS gene, levels of fetal hemoglobin and environmental conditions, which modify the disease expression. Science community believes that the presence of a polymorphism in the CCR5 gene, which is related to chronic inflammatory state ... more

A.F. Nascimento; J.S. Oliveira; J.C.Silva Junior; A.A.L. Barbosa
08/17/2017
Adolescent; Adult; Case-control studies; Child; Child, Preschool; Down syndrome; Female; Humans; Infant; Interleukin-6; male; Polymorphism, Single Nucleotide

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS ... more

M.F. Mattos; L. Uback; P.M. Biselli-Chicote; J.M. Biselli; E.M. Goloni-Bertollo; E.C. Pavarino
05/18/2017
Adult; Arsenic; Arsenic Poisoning; Case-control studies; DNA Breaks, Double-Stranded; DNA Breaks, Single-Stranded; Drinking Water; Female; Humans; male; Mexico

Different studies have suggested an association between arsenic (As) exposure and damage to single-stranded DNA by reactive oxygen species derived from the biotransformation of arsenic. The single strand damages are converted to double strand damage upon interaction with ultraviolet radiation. Analysis of genomic integrity is important for assessing the genotoxicity caused by environmental ... more

J. Jiménez-Villarreal; D.I. Rivas-Armendáriz; C.P. Pineda-Belmontes; N.D. Betancourt-Martínez; M.A. Macías-Corral; A.J. Guerra-Alanis; M.S. Niño-Castañeda; J. Morán-Martínez
09/27/2017
Acute coronary syndrome; Aged; Case-control studies; Female; Genotype; Heterozygote; Humans; male; Mexico; Middle Aged; Peptidyl-Dipeptidase A; Polymorphism, Single Nucleotide

Acute coronary syndrome (ACS) is considered one of the main causes of death worldwide. Contradictory findings concerning the impact of the angiotensin-converting enzyme (ACE) gene on cardiovascular diseases have been reported. Previous conclusions point out that the variability in results depends on ethnicity and genetic polymorphisms to determine the association of rs4340 polymorphisms of the ... more

A. Valdez-Haro; Y. Valle; E. Valdes-Alvarado; F. Casillas-Muñoz; J.F. Muñoz-Valle; G.L. Reynoso-Villalpando; H.E. Flores-Salinas; J.R. Padilla-Gutiérrez
12/02/2016
Asian Continental Ancestry Group; Child; Chromosome Deletion; Chromosomes, Human, Pair 2; Fingers; Heart Defects, Congenital; Hedgehog Proteins; Humans; Karyotype; male; Syndactyly; Waardenburg Syndrome

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect ... more

D. Wang; G.F. Ren; H.Z. Zhang; C.Y. Yi; Z.J. Peng
01/23/2017
Female; Genetic predisposition to disease; High-Throughput Nucleotide Sequencing; Humans; Macular Degeneration; male; Proteins; Risk; Turkey

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present ... more

H. Bardak; M. Gunay; Y. Ercalik; Y. Bardak; H. Ozbas; O. Bagci
02/16/2017
Adolescent; Adult; Aged; Case-control studies; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Interferon-gamma; Introns; male; Middle Aged; Multiple sclerosis; Polymorphism, Single Nucleotide; Young Adult

The present study aims to examine the relationship between polymorphisms in the third intron of the IFN-γ gene and their influence on susceptibility to multiple sclerosis. A population-based case-control study was used for this purpose. Multiple sclerosis patients and healthy controls were interviewed. Genetic polymorphisms of IFN-γ intron III at the +2118 A/G and +3586 G/ACT sites were ... more

X.L. Wang; F.R. Meng; X. Wang; S.H. Wang; L. Guo

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