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Identification of mutations in Danish choroideremia families
Author(s) -
Schwartz Marianne,
Rosenberg Thomas,
van den Hurk José A. J. M.,
van den Pol Dorien J. R.,
Cremers Frans P. M.
Publication year - 1993
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/humu.1380020108
Subject(s) - choroideremia , biology , single strand conformation polymorphism , genetics , danish , gene , polymerase chain reaction , dna sequencing , mutation , exon , computational biology , microbiology and biotechnology , linguistics , philosophy
We have searched for mutations in the choroideremia gene (CHM) in patients from 12 Danish families in which CHM is segregating. Employing polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and direct DNA sequencing, different mutations have been identified in 6 patients. All the mutations will interfere with the correct translation of the mRNA predicting a truncated protein or no gene product at all. © 1993 Wiley‐Liss, Inc.