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Detection of mutations in multi‐exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations
Author(s) -
Ganguly Arupa,
Williams Charlene
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)9:4<339::aid-humu6>3.0.co;2-0
Subject(s) - biology , exon , gene , genetics , hum , coding region , mutation , computational biology , dna sequencing , genomic dna , microbiology and biotechnology , art , performance art , art history
This report compares the relative advantages and disadvantages of two alternative strategies with respect to cost and time for finding mutations in the COL2A1 gene in patients with degenerative diseases of the joint. The coding region of the COL2A1 gene, 30 kb in length and containing 52 exons, can be analyzed using 26 genomic PCR products. The results indicate that the most efficient and cost effective way to screen large genes is a prescreen of the coding sequences followed by sequencing of a limited number of variant‐PCR products. Hum Mutat 9:339–343, 1997. © 1997 Wiley‐Liss, Inc.