𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique

✍ Scribed by Sylvie Tuffery; Philippe Moine; Jacques Demaille; Mireille Claustres

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
658 KB
Volume
2
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

We have established the experimental conditions to screen twenty regions of the dystrophin gene using the method of single-strand conformational polymorphism (SSCP) analysis. The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross D N A rearrangements detectable by Southern blot analysis or multiplex exon amplification. The investigation of thirteen patients using this procedure resulted in the detection of seven sequence polymorphisms (four identified in this study) that will be useful allelic markers in familial D N A analysis. Three rare sequence variants could be found (two of them being novel variants) but we were unable to demonstrate mutations that could be clearly sufficient to be responsible for the phenotype. This analysis confirmed the efficiency of the SSCP technique for the detection of nucleotide substitutions. Application of this approach to mutation or polymorphism detection to other exons of the gene will improve carrier and prenatal diagnosis.

πŸ“œ SIMILAR VOLUMES

A new intragenic polymorphism detected b
A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene
✍ Sylvie Tuffery; Jacques Demaille; Mireille Claustres πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 216 KB

We have employed the single strand conformation polymorphism (SSCP) technique to examine a group of patients with Duchenne or Becker muscular dystrophy who do not contain deletions detectable by multiplex PCR or SoutherdcDNA, in an attempt to identify uncommon mutations within the dystrophin gene. I

Use of the single-strand conformation po
Use of the single-strand conformation polymorphism technique to detect loss of heterozygosity in neuroblastoma
✍ Peter S. White; Bruce A. Kaufman; Helen N. Marshall; Dr. Garrett M. Brodeur πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 675 KB

## Abstract Human neuroblastomas are characterized by cytogenetic and molecular analysis as frequently containing deletions of distal 1p. Loss of heterozygosity (LOH) studies have localized a region of shared deletion to 1p35–36.1. Using the single‐strand conformation polymorphism (SSCP) technique,

Double missense mutation in exon 41 of t
Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis
✍ Saad, Fawzy A.; Merlini, Luciano; Mostacciuolo, Maria Luisa; Danieli, Gian Anton πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 14 KB πŸ‘ 2 views

## Development of late-onset Becker muscular dystrophy is reported in a patient whose two healthy brothers showed high serum creatine kinase level. No cases of neuromuscular disorders had been previously reported in this family. The analysis of the dystrophin gene showed that the three brothers ha

Detection of mutations and polymorphisms
Detection of mutations and polymorphisms in the p53 tumor suppressor gene by single-strand conformation polymorphism analysis
✍ Laura S. Kutach; Svetlana Bolshakov; Honnavara N. Ananthaswamy πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 124 KB πŸ‘ 2 views

## Detection of mutations and polymorphisms in the p53 tumor suppressor gene by single-strand conformation polymorphism analysis Deciphering the genetic mechanisms in cancer development requires analysis of a large number of tumors for consistent genetic alterations. Single-strand conformational p