5 research outputs found
Implementaci贸n de una metodolog铆a basada en las t茅cnicas PCR y TP-PCR para la genotipificaci贸n del microsat茅lite CAG del gen ATXN2 asociado con ataxia espinocerebelosa tipo 2 en el Centro de Investigaci贸n B谩sica en Neurogen茅tica
Publicaci贸n a texto completo no autorizada por el autorImplementa una metodolog铆a basada en PCR y TP-PCR para la genotipificaci贸n de este microsat茅lite en el Centro de Investigaci贸n B谩sica en Neurogen茅tica (CIBN) del Instituto Nacional de Ciencias Neurol贸gicas (INCN). Para determinar las condiciones 贸ptimas para la genotipificaci贸n se emplean 9 muestras de genotipo conocido (alelos normales y expandidos). Posteriormente, 114 muestras de casos con diagn贸stico presuntivo de ataxia hereditaria atendidos en el CIBN del INCN son analizadas por PCR convencional, de las cuales 91 muestras pasan a un segundo an谩lisis por TP-PCR. Se confirma el diagn贸stico en 10 muestras (8.77% de 114), que reportan una edad de inicio de la enfermedad en promedio de 27.5 卤 13.1 a帽os y un 80% procede de la sierra central peruana. Finalmente, se logra la implementaci贸n del protocolo de genotipificaci贸n basado en PCR y TP-PCR para la genotipificaci贸n del microsat茅lite del gen ATXN2.Tesi
Ausencia de la mutaci贸n A53T del gen SNCA en una muestra de pacientes con Enfermedad de Parkinson en el Per煤
Introducci贸n. La enfermedad de Parkinson (EP) es un trastorno neurodegenerativo com煤n, el segundo m谩s frecuente despu茅s de la enfermedad de Alzheimer. La mutaci贸n A53T en el gen SNCA, fue la primera identificada en asociaci贸n con EP. La mayor铆a de casos de EP en familias con esta mutaci贸n provienen de regiones cercanas al lugar del descubrimiento original. Objetivos: Evaluar la presencia de la mutaci贸n A53T en el gen SNCA en una muestra peruana de casos con EP de incidencia familiar, espor谩dicos y controles sanos. Material y M茅todos: Se analizaron, mediante la t茅cnica de PCR-RFLP, las muestras de ADN de 34 casos con EP espor谩dico, 7 casos de EP familiar y 32 individuos control. Resultados: No se encontr贸 la mutaci贸n A53T en la muestra analizada, por lo que se infiere que ella estar铆a confinada a pocas familias de origen cauc谩sico (europeo) asociadas a aqu茅llas con los casos originalmente descritos. Conclusiones: La mutaci贸n A53T no ser铆a un factor causal o primario de EP en los casos evaluados
Recommended from our members
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population
Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic variants in the
gene are a major cause of congenital non-syndromic hearing loss (NSHL), while their distribution is highly heterogeneous in different populations. To the best of our knowledge, there is no data regarding the genetic etiologies of HL in Peru. In this study, we screened 133 Peruvian families with NSHL living in Lima. We sequenced both exons of the
gene for all probands. Seven probands with familial NSHL that remained negative for
variants underwent whole genome sequencing (WGS). We identified biallelic pathogenic variants in
in 43 probands; seven were heterozygous for only one allele. The c.427C>T variant was the most common pathogenic variant followed by the c.35delG variant. WGS revealed three novel variants in
in two probands, one of them was predicted to affect splicing and the others produce a premature stop codon. The Peruvian population showed a complex profile for genetic variants in the
gene, this particular profile might be a consequence of the admixture history in Peru
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population
Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic variants in the GJB2 gene are a major cause of congenital non-syndromic hearing loss (NSHL), while their distribution is highly heterogeneous in different populations. To the best of our knowledge, there is no data regarding the genetic etiologies of HL in Peru. In this study, we screened 133 Peruvian families with NSHL living in Lima. We sequenced both exons of the GJB2 gene for all probands. Seven probands with familial NSHL that remained negative for GJB2 variants underwent whole genome sequencing (WGS). We identified biallelic pathogenic variants in GJB2 in 43 probands; seven were heterozygous for only one allele. The c.427C>T variant was the most common pathogenic variant followed by the c.35delG variant. WGS revealed three novel variants in MYO15A in two probands, one of them was predicted to affect splicing and the others produce a premature stop codon. The Peruvian population showed a complex profile for genetic variants in the GJB2 gene, this particular profile might be a consequence of the admixture history in Peru
Recommended from our members
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably non-syndromic HL in 322 families from South and West Asia and Latin America. Biallelic GJB2 variants were identified in 58 probands at the time of enrollment these probands were excluded. In addition, upon review of phenotypic findings, 38/322 probands were excluded based on syndromic findings at the time of ascertainment and no further evaluation was performed on those samples. We performed ES as a primary diagnostic tool on one or two affected individuals from 212/226 families. Via ES we detected a total of 78 variants in 30 genes and showed their co-segregation with HL in 71 affected families. Most of the variants were frameshift or missense and affected individuals were either homozygous or compound heterozygous in their respective families. We employed GS as a primary test on a subset of 14 families and a secondary tool on 22 families which were unsolved by ES. Although the cumulative detection rate of causal variants by ES and GS is 40% (89/226), GS alone has led to a molecular diagnosis in 7 of 14 families as the primary tool and 5 of 22 families as the secondary test. GS successfully identified variants present in deep intronic or complex regions not detectable by ES