Premium
Cystic fibrosis mutation frequencies in upstate New York
Author(s) -
Shrimpton Antony E.,
Borowitz Drucy,
Swender Phillip
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:6<436::aid-humu4>3.0.co;2-b
Subject(s) - exon , biology , cystic fibrosis transmembrane conductance regulator , cystic fibrosis , genetics , mutation , microbiology and biotechnology , polymerase chain reaction , heteroduplex , intron , population , gene , medicine , environmental health
Upstate New York patients (100) with cystic fibrosis (i.e., 200 CF chromosomes), 72 from the CF center in Syracuse and 28 from a Buffalo CF center, were analyzed for their CF‐causing mutations using restriction enzyme digest, single‐strand conformation analysis (SSCA), and Heteroduplex (HA) analysis. Polymerase chain reaction (PCR) amplified products from all 27 CFTR exons using primers that included flanking intron junction sequence were investigated. More than 120 known cystic fibrosis transmembrane conductance regulator (CFTR) disease‐causing mutations were screened. Four novel CFTR disease‐causing mutations were identified (N287Y in exon 6b, 1259insA in exon 8, R1070P in exon 17b, and CF?20kbdel14b‐18). A detection rate of 96% of the combined Syracuse and Buffalo population CF chromosomes was obtained. Hum Mutat 10:436–442, 1997. © 1997 Wiley‐Liss, Inc.