Research Article

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12/19/2016
Female; Gene frequency; Genetic markers; Humans; Immunologic Factors; Intravitreal Injections; Macular Degeneration; male; Polymorphism, Genetic; Precision Medicine; Proteins; Ranibizumab; Sequence Analysis, DNA; Treatment outcome

Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment ... more

H. Bardak; Y. Bardak; Y. Ercalik; T. Kumral; S. Imamoglu; M. Gunay; H. Ozbas; O. Bagci
2/23/2017
Adolescent; Adult; Brazil; Cross-Sectional Studies; Cystathionine beta-Synthase; Epistasis, Genetic; Female; Folic acid; Gene frequency; Genetic predisposition to disease; Genotype; Heterozygote; Homocysteine; Homozygote; Humans; Linkage disequilibrium; male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Polymorphism, Single Nucleotide; Risk factors; Thrombophilia; Thrombosis; Vitamin B 12; Young Adult

High plasma homocysteine (Hcy) ​​levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a ... more

F.M. Amaral; A.L. Miranda-Vilela; G.S. Lordelo; I.F. Ribeiro; M.B. Daldegan; C.K. Grisolia
3/30/2017
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
4/05/2017
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
05/31/2017
Bromeliaceae; Gene Amplification; Gene frequency; Heterozygote; Inbreeding; Microsatellite Repeats; Polymorphism, Genetic

The Alcantarea patriae is a Bromeliaceae endemic to the inselbergs of the Atlantic Forest. This taxon, described in the year of 2007 by Versieux & Wanderley, presents restricted and fragmented distribution outside conservation units. Studies to evaluate the genetic structure of its populations can contribute to the conservation and management strategies for the species. In this study, 31 ... more

A.G. Pereira; U.C.S. Bernardi; V.C. Manhães; R.S. Ferreira; F.D. Miranda
08/31/2017
Arecaceae; Evolution, Molecular; Gene flow; Gene frequency; Heterozygote; Linkage disequilibrium; Microsatellite Repeats; Polymorphism, Genetic

We assessed the level and distribution of genetic diversity in three species of the economically important palm genus Astrocaryum located in Pará State, in northern Brazil. Samples were collected in three municipalities for Astrocaryum aculeatum: Belterra, Santarém, and Terra Santa; and in two municipalities for both A. murumuru: Belém and Santo Antônio do Tauá and A. paramaca: Belém and ... more

N.P. Oliveira; M.S.P. Oliveira; L.C. Davide; S. Kalisz
09/27/2017
Ecuador; Gene frequency; Humans; Microsatellite Repeats; Polymorphism, Genetic; Population

One hundred and eighty-two samples of unrelated people who requested the paternity test at the Molecular Biology and Genetics Laboratory of the Catholic University of Cuenca-Ecuador in the province of Azuay were studied, except for the D1S1656 (180 samples) and SE33 (89 samples) markers. The STRs D22S1045, D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01, FGA, D1S1656, ... more

P.P. Orellana; C.F. Andrade; C.L. Arciniegas; G.C. Iannacone
12/02/2016
Actinin; Adult; Ankle Injuries; Asian People; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; male; Polymorphism, Single Nucleotide; Young Adult

In this study, we investigated the association between ACTN3 R577X polymorphism and non-acute ankle sprain by measuring the allele frequency and genotype distribution of ACTN3 in a Chinese Han population. We recruited 100 patients with non-acute ankle sprain and 100 healthy controls with no history of ankle injuries. Mass spectrometric analysis of single nucleotide polymorphism was used to ... more

B. Qi; J.Q. Liu; G.L. Liu
12/02/2016
Animals; Brazil; Breeding; Cattle; Gene frequency; Genetic markers; Leptin; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Red Meat; Sequence Analysis, DNA

Brazil is the world's largest producer of beef cattle; however, the quality of its herds needs to be improved. The use of molecular markers as auxiliary tools in selecting animals for reproduction with high pattern for beef production would significantly improve the quality of the final beef product in Brazil. The leptin gene has been demonstrated to be an excellent candidate gene for bovine ... more

R.C. Guimarães; J.S.N. Azevedo; S.C. Corrêa; J.E.G. Campelo; E.M. Barbosa; E.C. Gonçalves; S. Filho
12/19/2016
Amniotic fluid; Chromosomes, Human; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 21; Chromosomes, Human, X; Chromosomes, Human, Y; Female; Gene frequency; Genetic variation; Humans; Iran; male; Microsatellite Repeats; Pregnancy; Prenatal diagnosis; White People

Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic ... more

J. Saberzadeh; M.R. Miri; M.B. Tabei; M. Dianatpour; M. Fardaei

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