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A new set of primers for mutation analysis of the human PAX6 gene
Author(s) -
Love James,
Axton Richard,
Churchill Amanda,
van Heyningen Veronica,
Hanson Isabel
Publication year - 1998
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(1998)12:2<128::aid-humu8>3.0.co;2-n
Subject(s) - biology , genetics , pax6 , gene , mutation , computational biology , transcription factor
Mutations in the human PAX6 gene are an important cause of dominantly inherited congenital malformations of the eye, including aniridia, Peters' anomaly, keratitis, and isolated foveal hypoplasia. To satisfy the need for efficient detection of PAX6 mutations, we have developed a new set of oligonucleotides for genomic SSCP based on the recently completed genomic sequence of the entire human PAX6 gene. We also describe PAX6 mutations in eight aniridia patients, five of which are novel. Hum Mutat 12:128–134, 1998. © 1998 Wiley‐Liss, Inc.