Research Article

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3/30/2017

Analysis of the 19 Y-STR and 16 X-STR loci system in the Han population of Shandong province, China.

Alleles; Amelogenin; Asian People; China; Chromosomes, Human, X; Chromosomes, Human, Y; DNA fingerprinting; Ethnicity; Female; Forensic genetics; Gene frequency; Genetics, Population; Haplotypes; Humans; male; Microsatellite Repeats; Paternity; Polymorphism, Genetic

The sex-linked short tandem repeats (STR), Y-STR and X-STR, are important for autosomal STRs in forensic paternity testing. We evaluated the forensic parameters of 19 Y-STRs and 16 X-STRs in the Han population of Shandong province, China. A Goldeneye 20Y kit (DYS391, DYS389I, DYS390, DYS389II, DYS348, DYS456, Y-GATA-H4, DYS447, DYS19, DYS392, DYS393, DYS388, DYS439, DYS635, DYS448, DYS460, ... more

H.M. Gao; C. Wang; S.Y. Han; S.H. Sun; D.J. Xiao; Y.S. Wang; C.T. Li; M.X. Zhang
3/30/2017

TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study.

Adult; Alleles; Case-control studies; Gene frequency; Genetic predisposition to disease; Humans; male; Middle Aged; Pilot Projects; Polymorphism, Single Nucleotide; Receptors, Tumor Necrosis Factor, Type I; Russia; Spondylitis, Ankylosing; White People

The aim of this study was to assess the association between the TNFR1 rs2234649 polymorphism and ankylosing spondylitis susceptibility in a Russian Caucasian population. A total of 41 ankylosing spondylitis patients and 43 healthy controls, matched according to age and sex, were enrolled, and polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the ... more

V. Mordovskii; A. Semenchukov; S.Y. Nikulina; A.B. Salmina; A. Chernova; E. Kapustina; A. Kents; A. Ohapkina; E. Moskaleva; P.E. Maltese; P. Convertini; M. Bertelli
4/05/2017

Identification of significant pathway cross-talk in rheumatoid arthritis by the Monte Carlo cross-validation method.

Arthritis, Rheumatoid; Gene expression profiling; Humans; Models, Genetic; Monte Carlo method; Signal transduction; Transcriptome

We attempted to identify significant pathway cross-talk in rheumatoid arthritis (RA) by the Monte Carlo cross-validation (MCCV) method. We therefore obtained and preprocessed the gene expression profile of RA. MCCV involves identifying differentially expressed genes (DEGs), identifying differential pathways (DPs), calculating the discriminating score (DS) of the pathway cross-talk, and random ... more

W. Song; Y.M. Zhang; T. Ma; J. Wang; K.Z. Wang
4/05/2017

Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women.

Adult; Alleles; Asian People; Case-control studies; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Interleukin-4; Polymorphism, Single Nucleotide; Pre-eclampsia; Pregnancy; Risk factors

Preeclampsia is a common disease unique to pregnant women, and its development involves many genetics l factors. IL-4 is an important regulatory factor of the Th2 cellular immune response, and plays an important role in the induction of placental growth. In this study, we investigated the relationship between IL-4 C-590T, C+33T and G-1098T polymorphisms and risk of pre-eclampsia in a ... more

J. Chen; M. Zhong; Y.H. Yu
4/05/2017

Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes.

Adult; Aged; Brazil; Case-control studies; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Insulin-Secreting Cells; KATP Channels; male; Middle Aged; Polymorphism, Single Nucleotide; Potassium Channels, Inwardly Rectifying; White People

Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a ... more

S.W. Souza; L.P. Alcazar; P.A. Arakaki; I.C.R. Santos-Weiss; D. Alberton; G. Picheth; F.G.M. Rego
4/05/2017

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

Alleles; DNA; DNA Primers; Forensic genetics; Gene frequency; Genetics, Population; Humans; Microsatellite Repeats; Molecular Diagnostic Techniques; Multiplex polymerase chain reaction; Polymorphism, Genetic

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, D2S441, D17S1301, D19S433, D18S853, D20S482, and D14S1434) and the ... more

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; A.D. da Cruz
4/05/2017

REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review.

Alleles; Brazil; Gene frequency; Genetic association studies; Haplotypes; Humans; Huntingtin Protein; Huntington Disease; Mutation; Trinucleotide repeat expansion

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 more than 35 repeats. The IAs apparently have shown a normal phenotype. ... more

T.A. Apolinário; C.L.A. Paiva; L.A. Agostinho
4/13/2017

Effect of gene transfection timing on TGF-β1 expression in rabbit mandibular distraction gap.

Animals; Bone morphogenetic protein 2; Genetic Therapy; Humans; Mandible; Osteogenesis, Distraction; Rabbits; Transforming Growth Factor beta1; Vascular Endothelial Growth Factor A

Transforming growth factor-β1 (TGF-β1) is a member of the TGF-β superfamily, and plays an important role in promoting various stages of intramembranous and endochondral bone formation. It is one of the major growth factors that influence new bone formation in the distraction gap during distraction osteogenesis (DO). The major problem of DO is the time required for the treatment. Reports show ... more

M.K. Xie; C.B. Hu; B. Zhou; G.P. Wu
4/13/2017

Biotools: an R function to predict spatial gene diversity via an individual-based approach.

Animals; Gene frequency; Heterozygote; Humans; Polymorphism, Genetic; Software

The gene diversity or expected heterozygosity (H) is based on the allele frequency and is often used as a measure of genetic variability of populations. Knowing the pattern of spatial distribution of H can be useful for determining strategies of conservation and sampling of collections of individuals. In addition, it can allow one to detect genetic boundaries in a landscape. We adapted a ... more

A.R. da Silva; G. Malafaia; I.P.P. Menezes
4/20/2017

Association of interleukin-6 gene polymorphisms and circulating levels with keloid scars in a Chinese Han population.

Adolescent; Adult; Alleles; Case-control studies; China; Female; Genotype; Humans; Interleukin-6; Keloid; male; Middle Aged; Polymorphism, Single Nucleotide

The aim of the present study is to explore the effect of IL-6 gene polymorphisms on the development of keloid scar (KS) in the Chinese Han population. Genotyping of IL-6 was performed by the polymerase chain reaction (PCR), followed by restriction fragment length polymorphism assays (PCR-RFLP). Serum level of IL-6 was measured using enzyme-linked immunosorbent assay (ELISA). Results indicated ... more

X.J. Zhu; W.Z. Li; H. Li; C.Q. Fu; J. Liu

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