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Titolo:
MOLECULAR STUDY OF HUMAN GROWTH-HORMONE GENE-CLUSTER IN 3 FAMILIES WITH ISOLATED GROWTH-HORMONE DEFICIENCY AND SIMILAR PHENOTYPE
Autore:
CACCIARI E; PIRAZZOLI P; GUALANDI S; BARONCINI C; BALDAZZI L; TREVISANI B; CAPELLI M; ZUCCHINI S; BALSAMO A; CICOGNANI A; BERNARDI F;
Indirizzi:
CLIN PEDIAT 1,VIA MASSARENTI 11 I-40138 BOLOGNA ITALY ST ORSOLA HOSP,CENT LAB BOLOGNA ITALY UNIV FERRARA,INST BIOCHEM FERRARA ITALY
Titolo Testata:
European journal of pediatrics
fascicolo: 9, volume: 153, anno: 1994,
pagine: 635 - 641
SICI:
0340-6199(1994)153:9<635:MSOHGG>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN CHORIONIC SOMATOMAMMOTROPIN; GLOBIN GENE; ANTIBODY-FORMATION; ACTIVATION-REGION; DELETION; PITUITARY; EXPRESSION; DENOVO; IA; POLYMORPHISM;
Keywords:
GROWTH HORMONE; ISOLATED GROWTH HORMONE DEFICIENCY; GROWTH HORMONE GENE DELETION; MOLECULAR DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
E. Cacciari et al., "MOLECULAR STUDY OF HUMAN GROWTH-HORMONE GENE-CLUSTER IN 3 FAMILIES WITH ISOLATED GROWTH-HORMONE DEFICIENCY AND SIMILAR PHENOTYPE", European journal of pediatrics, 153(9), 1994, pp. 635-641

Abstract

The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes of the cluster: hGH-N, hCS-L, hCS-A and hGH-V. Both siblings produced high anti-GH antibody levels inresponse to exogenous GH therapy, followed by growth arrest a few months after starting replacement therapy. In patient 3 we detected a heterozygous deletion which involved three genes of the cluster (hCS-A, hGH-V, hCS-B) and left an intact hGH-N gene. Direct sequencing of hGH-Nspecific amplified fragments excluded the presence of any point mutations in exons and splicing regions. In patients 4 and 5 (sisters) our study did not demonstrate any gene deletions. Analysis of polymorphic restriction patterns in this family demonstrated that both sisters inherited the same alleles from the father but different alleles from themother, suggesting that the defect was not linked to the hGH-N gene. These results confirm the difficulty of clinical identification of subjects with hGH-N deletion and underline the importance of DNA analysisin patients with absence of GH secretion and extreme growth retardation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 18:22:50