Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
Autore:
Jones, AC; Sampson, JR; Hoogendoorn, B; Cohen, D; Cheadle, JP;
Indirizzi:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales Univ Wales Coll Med, Div Psychol Med, Cardiff CF14 4XN, S Glam, Wales UnivWales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales Univ Glamorgan, Sch Business Studies, Hlth Econ Unit, Pontypridd CF62 4XW,Rhondda, Wales Univ Glamorgan Pontypridd Rhondda Wales CF62 4XW CF62 4XW,Rhondda, Wales
Titolo Testata:
HUMAN GENETICS
fascicolo: 6, volume: 106, anno: 2000,
pagine: 663 - 668
SICI:
0340-6717(200006)106:6<663:AAEODH>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN TRUNCATION TEST; COMPREHENSIVE MUTATION ANALYSIS; TSC2 GENE; DIAGNOSTIC-CRITERIA; TEST PTT; COMPLEX; MOSAICISM; FREQUENT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Sampson, JR Univ Wales Coll Med, Inst Med Genet, Heath Pk, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Heath Pk Cardiff S Glam Wales CF14 4XNles
Citazione:
A.C. Jones et al., "Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis", HUM GENET, 106(6), 2000, pp. 663-668

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple tissues and organs. TSC exhibits locus heterogeneity with genes at 9q34 (TSC1) and 16p13.3 (TSC2) that have 21 and 41 coding exons, respectively. The mutational spectrum at both loci is wide and previous studies have shown that 60%-70% of cases are sporadic and represent new mutations. We have formatted denaturing high performance liquid chromatography (DHPLC) for rapid screening of all coding exons of TSC1 and TSC2. DHPLC analysis detected likely disease-causing mutations in 103 of 150 unrelated cases (68%), compared with 92/150 (61%) and 87/150 (58%) fdr single-strand conformation polymorphism analysis (SSCP) and conventional heteroduplex analysis (HA), respectively. Capital, consumable and labour costs were determined for each exon screening procedure. Estimated costsper patient sample depended on throughput, particularly for DHPLC, where ahigh proportion of costs are fixed, and were pound 257, pound 216 and pound 242 for DHPLC, SSCP and HA, respectively, assuming a throughput of 252 samples per year, or pound 354, pound 233 and pound 259, assuming a throughput of 126 samples per year. DHPLC had the advantages of increased sensitivity and reduced labour costs when compared with more traditional approaches to exon screening but, unless expensive DHPLC equipment is being efficientlyutilised for a very high proportion of the time available, overall costs are slightly higher.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:12:38