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Titolo:
A KERATIN-14 MUTATIONAL HOT-SPOT FOR EPIDERMOLYSIS-BULLOSA SIMPLEX, DOWLING-MEARA - IMPLICATIONS FOR DIAGNOSIS
Autore:
STEPHENS K; SYBERT VP; WIJSMAN EM; EHRLICH P; SPENCER A;
Indirizzi:
UNIV WASHINGTON,DEPT MED,DIV MED GENET SEATTLE WA 98195 UNIV WASHINGTON,DEPT MED,DIV DERMATOL SEATTLE WA 98195 UNIV WASHINGTON,DEPT PEDIAT SEATTLE WA 98195 UNIV WASHINGTON,CHILDRENS ORTHOPED HOSP & MED CTR SEATTLE WA 98105 UNIV WASHINGTON,CHILDRENS ORTHOPED HOSP & MED CTR,DEPT BIOSTAT SEATTLE WA 98105
Titolo Testata:
Journal of investigative dermatology
fascicolo: 2, volume: 101, anno: 1993,
pagine: 240 - 243
SICI:
0022-202X(1993)101:2<240:AKMHFE>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENES; DISEASE;
Keywords:
GENODERMATOSIS; BLISTERS; INTERMEDIATE FILAMENTS; EPIDERMOLYSIS BULLOSA HERPETIFORMIS;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
K. Stephens et al., "A KERATIN-14 MUTATIONAL HOT-SPOT FOR EPIDERMOLYSIS-BULLOSA SIMPLEX, DOWLING-MEARA - IMPLICATIONS FOR DIAGNOSIS", Journal of investigative dermatology, 101(2), 1993, pp. 240-243

Abstract

Recently, two patients with the Dowling-Meara subtype of epidermolysis bullosa simplex (EBS-DM) were reported with different mutations in codon 125 of the keratin 14 gene. To determine whether these are commonmutations, we screened ten EBS-DM patients and their families using single nucleotide primer extension. Four of ten unrelated EBS-DM patients had a G --> A substitution at base pair 434 of codon 125, whereas one case out of ten had a C --> T substitution at position 433 of the same codon. The G434A alteration cosegregated with the disorder in two multigenerational families; no recombination events were detected. In these two families, linkage analysis provided significant evidence in favor of linkage between G434A and the EBS-DM phenotype, with a LOD score of 3.29 at a recombination rate of 0%. Codon 125 substitutions identified in three unrelated sporadic EBS-DM patients were not found in their clinically unaffected parents. Together, these data provide compelling genetic evidence that the codon 125 substitutions are causal for EBS-DM. The high frequency of mutation at this site in individuals with EBS-DM now makes DNA-based diagnosis of this disorder feasible.

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Documento generato il 03/12/20 alle ore 06:00:27