Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

Autor: Yan D; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Xiang G; National Engineering Research Center for Beijing Biochip Technology, Beijing, China., Chai X; National Engineering Research Center for Beijing Biochip Technology, Beijing, China.; Tsinghua University School of Medicine, Beijing, China., Qing J; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Shang H; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Zou B; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Mittal R; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Shen J; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Laboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, Massachusetts, United States of America., Smith RJ; Department of Otolaryngology - Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America., Fan YS; Department of Pathology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.; Dr. John T. Macdonald Department of Human Genetics and John P.Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Blanton SH; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.; Department of Pathology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Tekin M; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.; Department of Pathology, University of Miami Miller School of Medicine, Miami, Florida, United States of America., Morton C; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Center, University of Manchester, United Kingdom., Xing W; National Engineering Research Center for Beijing Biochip Technology, Beijing, China.; Tsinghua University School of Medicine, Beijing, China., Cheng J; National Engineering Research Center for Beijing Biochip Technology, Beijing, China.; Tsinghua University School of Medicine, Beijing, China., Liu XZ; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.; Tsinghua University School of Medicine, Beijing, China.; Dr. John T. Macdonald Department of Human Genetics and John P.Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2017 Mar 08; Vol. 12 (3), pp. e0169219. Date of Electronic Publication: 2017 Mar 08 (Print Publication: 2017).
DOI: 10.1371/journal.pone.0169219
Abstrakt: The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent. They consist of c.35delG, p.W44C, p.L90P, c.167delT (GJB2); 309kb deletion (GJB6); p.L236P, p.T416P (SLC26A4); and m.1555A>G, m.7444G>A (mtDNA). We have validated our hearing loss array by analyzing a total of 160 DNAs samples. Our results show 100% concordance between the fluidic array biochip-based approach and the established Sanger sequencing method, thus proving its robustness and reliability at a relatively low cost.
Databáze: MEDLINE