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Literature DB >> 7705841

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.

A Winterpacht¹, K Hilbert, U Schwarze, B Zabel.

Abstract

We have developed a protocol that allows fast and efficient mutation screening of the 54 exons from the type II procollagen (COL2A1) gene. The protocol is based on the multiple non-radioactive hybridization of blotted single-strand conformation polymorphism gels. Using this screening procedure we have been able to identify a new (Gly895 to Ser) mutation in the COL2A1 gene of a patient with a mild form of spondyloepiphyseal dysplasia congenita.

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Procollagen
DNA

Year: 1995 PMID： 7705841 DOI： 10.1007/bf00208971

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

16 in total

1. Nonisotopic SSCP detection in PCR products by ethidium bromide staining.

Authors: E P Yap; J O McGee
Journal: Trends Genet Date: 1992-02 Impact factor: 11.639

2. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors: M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal: Genomics Date: 1989-11 Impact factor: 5.736

3. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

Authors: M Ravnik-Glavac; D Glavac; M Dean
Journal: Hum Mol Genet Date: 1994-05 Impact factor: 6.150

4. Reduction of background problems in nonradioactive northern and Southern blot analyses enables higher sensitivity than 32P-based hybridizations.

Authors: G Engler-Blum; M Meier; J Frank; G A Müller
Journal: Anal Biochem Date: 1993-05-01 Impact factor: 3.365

Review 5. The rapid detection of unknown mutations in nucleic acids.

Authors: M Grompe
Journal: Nat Genet Date: 1993-10 Impact factor: 38.330

6. Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Authors: P Freisinger; L Ala-Kokko; D LeGuellec; S Franc; R Bouvier; P Ritvaniemi; D J Prockop; J Bonaventure
Journal: J Biol Chem Date: 1994-05-06 Impact factor: 5.157

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.

1. Nonisotopic SSCP detection in PCR products by ethidium bromide staining.

2. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

3. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

4. Reduction of background problems in nonradioactive northern and Southern blot analyses enables higher sensitivity than 32P-based hybridizations.

Review 5. The rapid detection of unknown mutations in nucleic acids.

6. Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Review 7. The type II collagenopathies: a spectrum of chondrodysplasias.

8. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

9. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

10. Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.

1. Multiplex, fluorescent single-strand conformation polymorphism using stepped polymerase chain reaction primers.

2. Considerations in adding mutation detection services to a sequencing core facility.