RESUMEN
A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.
Asunto(s)
Genética de Población , Mutación INDEL , Polimorfismo de Nucleótido Simple , Grupos Raciales/genética , Dermatoglifia del ADN , Bases de Datos de Ácidos Nucleicos , Etnicidad/genética , Frecuencia de los Genes , Genotipo , Humanos , Laboratorios/estadística & datos numéricos , Repeticiones de MicrosatéliteRESUMEN
Sudden cardiac death (SCD) is a major public health concern worldwide, and genetic analysis may be useful in identifying the cause of death as well as in determining the possible genetic risk factors for SCD. This study analyzed eight SNPs (single nucleotide polymorphisms) highly correlated with cardiac sudden death in samples (blood and bone) from six Brazilian families with a history of cardiovascular diseases. Individuals with no family history of cardiovascular diseases were recruited as controls. Y chromosomes and mtDNA haplogroups belonging to these subjects were verified as well. We found that SNP rs16857031 showed significant differences between the group with a family history of cardiovascular diseases and the control group. Furthermore, the data obtained were compatible with known frequencies of SNPs for the haplogroups in which the samples were classified. A possible hereditary factor was identified for SNP rs4725982 in one family. These preliminary results suggest that identification of certain SNPs could be used to assess risk factors for SCD.
Asunto(s)
Cardiomiopatías/genética , Muerte Súbita Cardíaca , Marcadores Genéticos/genética , Adulto , Anciano , Brasil , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa Multiplex , Linaje , Polimorfismo de Nucleótido Simple , Factores de RiesgoRESUMEN
Random amplified polymorphic DNA (RAPD) was used to detect polymorphisms among Zaprionus indianus fly populations collected from six municipalities in the States of São Paulo and Minas Gerais, Brazil. This species is an important, recently introduced fruit fly pest of figs and other fruit. Among 21 primers, 16 produced 73 reproducible polymorphic fragments; primer AM-9 produced the greatest number of polymorphic bands (nine), with 52% genetic variability among populations. Genetic divergence analysis of the Z. indianus populations demonstrated two major groups, named Western and Eastern groups. There was greater gene flow within than between groups. The correlation coefficient for genetic and geographic distances (Mantel test) was significant, demonstrating isolation by distance.
