Research Article

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4/05/2017
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
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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
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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
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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
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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
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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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Antineoplastic Agents; Biomarkers, Tumor; Female; Fusion Proteins, bcr-abl; Humans; Imatinib mesylate; Leukemia, Myeloid, Chronic-Phase; Leukocyte Count; male; Middle Aged; Platelet count; RNA, Messenger

In chronic myeloid leukemia (CML) two main types of messenger RNA (e14a2 and e13a2) can be produced by BCR-ABL1 gene rearrangement. Due to conflicting results, the clinical value of these transcripts remains controversial. The aim of this study was to identify associations of e14a2 and e13a2 transcripts with laboratory variables and also the response to treatment. This study included 203 adult ... more

A.P. Vasconcelos; I.F. Azevedo; F.C.B.C. Melo; W.B. Neves; A.C.A.C. Azevedo; R.A.M. Melo
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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
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Adolescent; Adult; Brazil; Chlamydia Infections; Chlamydia trachomatis; Female; Genotype; Humans; Middle Aged; Papillomaviridae; Papillomavirus Infections; Prevalence; Trichomonas vaginalis; Trichomonas Vaginitis

Sexually transmitted infections are an important cause of morbidity among sexually active women worldwide, and have been implicated as cofactors in the pathogenesis of cervical cancer. We investigated the prevalence of human papillomavirus (HPV), Chlamydia trachomatis (CT), and Trichomonas vaginalis (TV), and accessed the diversity of HPV in women with normal and abnormal cytology in Manaus, ... more

E. Costa-Lira; A.H.V.L. Jacinto; L.M. Silva; P.F.R. Napoleão; R.A.A. Barbosa-Filho; G.J.S. Cruz; S. Astolfi-Filho; C.M. Borborema-Santos
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Chromosomes, Human, Y; Databases, Nucleic Acid; Forensic genetics; Haplotypes; Humans; male; Microsatellite Repeats; Polymerase chain reaction

The use of Y chromosome haplotypes, important for the detection of sexual crimes in forensics, has gained prominence with the use of databases that incorporate these genetic profiles in their system. Here, we optimized and validated an amplification protocol for Y chromosome profile retrieval in reference samples using lesser materials than those in commercial kits. FTA cards (Flinders ... more

C.A. Souza; T.C. Oliveira; S. Crovella; S.M. Santos; K.C.N. Rabêlo; E.P. Soriano; M.V.D. Carvalho; A.F.Caldas Junior; G.G. Porto; R.I.C. Campello; A.A. Antunes; R.A. Queiroz; S.M. Souza

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