Research Article

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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
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Asian People; 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
07/06/2017
Asian People; DNA, Mitochondrial; Haplotypes; Human Migration; Humans; Polymorphism, Genetic; Thailand

The lower northern part of Thailand contains various genetically diverse ethnic populations. The sequences of the mitochondrial DNA hypervariable region were studied in three ethnic populations inhabiting Phitsanulok Province. One hundred and nine nucleotide sequences - 53, 29, and 27 from Hmongs (Hill tribe), Lao Songs, and Thai-Siams, respectively - were collected. The haplotypes were ... more

U. Suyasunanont; M. Nakkuntod; S. Mirasena
12/19/2016
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; White People

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a ... more

A.M. Lanes; L.S. Louro; D.P. Ventorim; E. Stur; F.M. Garcia; L.P. Agostini; L.N.R. Alves; R.S. Reis; I.D. Louro; R.S. Dettogni
3/30/2017
Alleles; Crops, Agricultural; Gene frequency; Genetic markers; Genetic variation; Genotype; Microsatellite Repeats; Phylogeny; Plant breeding; Polymorphism, Genetic; Random Amplified Polymorphic DNA Technique; Zea mays

Genetic diversity in crops is essential to make improvements related to superior germplasms. Implementation of molecular markers to identify suitable genotypes speeds up the breeding progress by enhancing selection efficiency. This study was carried out to probe genetic diversity among 21 maize genotypes using 20 inter simple sequence repeat (ISSR) markers. We identified a total of 190 ... more

R.W. Muhammad; A. Qayyum; M.Q. Ahmad; A. Hamza; M. Yousaf; B. Ahmad; M. Younas; W. Malik; S. Liaqat; E. Noor
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
4/05/2017
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
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
4/28/2017
Dipteryx; Gene frequency; Genetic markers; Genotype; High-Throughput Nucleotide Sequencing; Microsatellite Repeats; Polymorphism, Genetic; Sequence Analysis, DNA

The use of next-generation sequencing (NGS) technologies provides a great volume of genome sequence data even for non-model species. The development of microsatellite markers using these data is a relatively quick and easy process. Dipteryx alata Vogel (Fabaceae) is an arboreal species from the Cerrado biome and is considered an important plant genetic resource. Here, we report the development ... more

R.A. Guimarães; M.P.C. Telles; A.M. Antunes; K.M. Corrêa; C.V.G. Ribeiro; A.S.G. Coelho; T.N. Soares
08/17/2017
Eucalyptus; Gene frequency; Genotype; Linkage disequilibrium; Microsatellite Repeats; Polymorphism, Genetic

Eucalyptus urophylla is an important species in the Brazilian forest sector due to its rapid growth rates and resistance to disease. The aim of this study was to verify Mendelian inheritance, genetic linkage, and genotypic disequilibrium for 15 microsatellite loci, with the goal of producing a robust set of genetic markers. Mendelian inheritance and genetic linkage analyses were carried out ... more

S. Pupin; L.N. Rosse; I.C.G. Souza; J. Cambuim; C.L. Marino; M.L.T. Moraes; A.M. Sebbenn

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