NONRADIOACTIVE MULTIPLEX-SSCP ANALYSIS - DETECTION OF A NEW TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION

Authors
WINTERPACHT A HILBERT K SCHWARZE U ZABEL B
Citation
A. Winterpacht et al., NONRADIOACTIVE MULTIPLEX-SSCP ANALYSIS - DETECTION OF A NEW TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION, Human genetics, 95(4), 1995, pp. 437-439
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
95
Issue
4
Year of publication
1995
Pages
437 - 439
Database
ISI
SICI code
0340-6717(1995)95:4<437:NMA-DO>2.0.ZU;2-O
Abstract
We have developed a protocol that allows fast and efficient mutation s creening of the 54 exons from the type II procollagen (COL2A1) gene. T he protocol is based on the multiple non-radioactive hybridization of blotted single-strand conformation polymorphism gels. Using this scree ning procedure we have been able to identify a new (Gly895 to Ser) mut ation in the COL2A1 gene of a patient with a mild form of spondyloepip hyseal dysplasia congenita.