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Titolo:
MUTATIONS IN THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN A PATIENT WITH CLASSIC SALT-WASTING 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY CONGENITAL ADRENAL-HYPERPLASIA
Autore:
CHANG YT; KAPPY MS; IWAMOTO K; WANG J; YANG X; PANG S;
Indirizzi:
UNIV ILLINOIS,COLL MED,DEPT PEDIAT MC 856,840 S WOOD ST CHICAGO IL 60612 ST JOSEPHS HOSP,CTR CHILDRENS HLTH PHOENIX AZ 85013
Titolo Testata:
Pediatric research
fascicolo: 5, volume: 34, anno: 1993,
pagine: 698 - 700
SICI:
0031-3998(1993)34:5<698:MITT3D>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
EXPRESSION; CELLS;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
8
Recensione:
Indirizzi per estratti:
Citazione:
Y.T. Chang et al., "MUTATIONS IN THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN A PATIENT WITH CLASSIC SALT-WASTING 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY CONGENITAL ADRENAL-HYPERPLASIA", Pediatric research, 34(5), 1993, pp. 698-700

Abstract

Inherited adrenal and gonadal 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency is most likely caused by a mutation of the type II 3 beta-HSD gene. Cloning and sequencing of exons I-II, III, and IV and portions of the adjacent introns, amplified by polymerase chain reaction using primers specific for the type II gene, in one male pseudohermaphrodite with salt-wasting classic 3 beta-HSD deficiency congenital adrenal hyperplasia revealed the same mutation in all nine clones ofexon IV consisting of a missense mutation at codon 248 [GTC (Val)-->AAC (Asn)] followed by a frameshift mutation at codon 249 [CGA (Arg)-->TA], resulting in a stop codon TAG, and normal sequences of exon I-II and III and the adjacent portions of introns. The same codon 248 and 249 mutations were found on one clone of his mother's DNA, but two other clones revealed normal sequences. These data indicate a homozygous combined missense/frameshift mutation in exon IV of the type II 3 beta-HSD gene resulting in severe salt-washing adrenal and gonadal 3 beta-HSD deficiency in the patient.

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Documento generato il 29/11/20 alle ore 06:36:53