Asunto(s)
Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/genética , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Neoplasias/genética , Polimorfismo de Nucleótido Simple , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/genética , Automatización/instrumentación , Automatización/métodos , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Análisis Mutacional de ADN/instrumentación , Análisis Mutacional de ADN/métodos , Bases de Datos de Ácidos Nucleicos , Femenino , Frecuencia de los Genes , Enfermedades Genéticas Congénitas/terapia , Variación Genética , Genética de Población , Genoma Humano , Haplotipos , Humanos , Herencia Multifactorial , Neoplasias/diagnóstico , Neoplasias/terapia , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Farmacogenética , TrombofiliaRESUMEN
The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in commercially available reagents or platforms. The alleles in many publicly available cell lines that could serve as reference materials have neither been confirmed nor characterized. The Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community as well as Coriell Cell Repositories, have characterized an extended panel of publicly available genomic DNA samples that could serve as reference materials for cystic fibrosis testing. Six cell lines [containing the following mutations: E60X (c.178G>T), 444delA (c.312delA), G178R (c.532G>C), 1812-1G>A (c.1680-1G>A), P574H (c.1721C>A), Y1092X (c.3277C>A), and M1101K (c.3302T>A)] were selected from those existing at Coriell, and seven [containing the following mutations: R75X (c.223C>T), R347H (c.1040G>A), 3876delA (c.3744delA), S549R (c.1646A>C), S549N (c.1647G>A), 3905insT (c.3773_3774insT), and I507V (c.1519A>G)] were created. The alleles in these materials were confirmed by testing in six different volunteer laboratories. These genomic DNA reference materials will be useful for quality assurance, proficiency testing, test development, and research and should help to assure the accuracy of cystic fibrosis genetic testing in the future. The reference materials described in this study are all currently available from Coriell Cell Repositories.