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Titolo:
ALLELIC VARIATIONS IN THE HUMAN GROWTH HORMONE-1 GENE PROMOTER OF GROWTH HORMONE-DEFICIENT PATIENTS AND NORMAL CONTROLS
Autore:
WAGNER JK; EBLE A; COGAN JD; PRINCE MA; PHILLIPS JA; MULLIS PE;
Indirizzi:
UNIV BERN,CHILDRENS HOSP,INSELSPITAL,DEPT PEDIAT CH-3010 BERN SWITZERLAND UNIV BERN,CHILDRENS HOSP,INSELSPITAL,DEPT PEDIAT CH-3010 BERN SWITZERLAND VANDERBILT UNIV,SCH MED,DEPT PEDIAT NASHVILLE TN 37232
Titolo Testata:
European journal of endocrinology
fascicolo: 5, volume: 137, anno: 1997,
pagine: 474 - 481
SICI:
0804-4643(1997)137:5<474:AVITHG>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHORIONIC SOMATOMAMMOTROPIN; BLOTTING ELECTROPHORESIS; LOCUS; EVOLUTION; DELETIONS; CHROMOSOME-17; PREVALENCE; BIOLOGY; CLUSTER; REGION;
Tipo documento:
Article
Natura:
Periodico
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
J.K. Wagner et al., "ALLELIC VARIATIONS IN THE HUMAN GROWTH HORMONE-1 GENE PROMOTER OF GROWTH HORMONE-DEFICIENT PATIENTS AND NORMAL CONTROLS", European journal of endocrinology, 137(5), 1997, pp. 474-481

Abstract

Objective: Isolated growth hormone deficiency (IGHD) type IB is suggested to be more probably due to alterations in the genes directly involved in the hypothalamo-pituitary axis and/or in the specific transcriptional regulation (cis-trans coupling) of the hGH-1 gene than to alterations in the gene itself. In this study we analyzed the hGH-1 gene promoter region for structural alterations and allelic variations. Methods: The hGH-1 gene promoter region was analyzed by PCR, cycle sequencing and direct-blotting electrophoresis in a total of 212 individuals including 113 patients with IGHD type IB, 21 unaffected family membersand 78 normal controls. Results: Twenty-two sequence variation sites were identified, Of these, 14% were located around the region of -1075bp, 77% between -550bp and the translational start site (+1bp) and 9% within the first intron. Only one variation site affected a characterized cis-acting element, namely that of NF-1. Importantly, all the variations found in patients were also observed in non-affected family members as well as in normal unrelated controls. Conclusions: These findings imply that it is not a single variation within the GH-1 gene promoter, and therefore in the cis-acting elements, which causes IGHD, However, we can not exclude the possibility that combinations of variations might perturb expression. Furthermore, these data illustrate the normal heterogeneity of the GH-1 gene promoter region, a fact that has tobe borne in mind whenever transcriptional studies are performed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 19:37:36