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Titolo:
DIVERSE GROWTH-HORMONE RECEPTOR GENE-MUTATIONS IN LARON SYNDROME
Autore:
BERG MA; ARGENTE J; CHERNAUSEK S; GRACIA R; GUEVARAAGUIRRE J; HOPP M; PEREZJURADO L; ROSENBLOOM A; TOLEDO SPA; FRANCKE U;
Indirizzi:
STANFORD UNIV,MED CTR,SCH MED,BECKMAN CTR MOLEC & GENET MED,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,SCH MED,BECKMAN CTR MOLEC & GENET MED,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,SCH MED,DEPT GENET STANFORD CA 94305 STANFORD UNIV,MED CTR,SCH MED,DEPT PEDIAT STANFORD CA 94305 CHILDRENS HOSP MED CTR CINCINNATI OH 45229 UNIV AUTONOMA MADRID,HOSP LA PAZ MADRID 34 SPAIN UNIV AUTONOMA MADRID,HOSP NINO JESUS MADRID 34 SPAIN INST ENDOCRINOL METAB & REPROD QUITO ECUADOR UNIV WITWATERSRAND JOHANNESBURG 2001 SOUTH AFRICA UNIV FLORIDA GAINESVILLE FL 32611 UNIV SAO PAULO SAO PAULO BRAZIL
Titolo Testata:
American journal of human genetics
fascicolo: 5, volume: 52, anno: 1993,
pagine: 998 - 1005
SICI:
0002-9297(1993)52:5<998:DGRGIL>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
GRADIENT GEL-ELECTROPHORESIS; SINGLE-BASE CHANGES; SYNDROME TYPE-IV; III PROCOLLAGEN; BINDING-PROTEIN; DWARFISM; DNA; EXON; EXPRESSION; DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
M.A. Berg et al., "DIVERSE GROWTH-HORMONE RECEPTOR GENE-MUTATIONS IN LARON SYNDROME", American journal of human genetics, 52(5), 1993, pp. 998-1005

Abstract

To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-hormone insensitivity syndrome), we analyzed the growth-hormone receptor (GHR) genes of seven unrelated affected individuals from the United States, South America, Europe, and Africa. We amplified all nine GHR gene exons and splice junctions from these individuals by PCR and screened the products for mutations by using denaturing gradient gel electrophoresis (DGGE). We identified a single GHR gene fragment with abnormal DGGE results for each affected individual, sequenced this fragment, and, in each case, identified a mutation likely to cause Laron syndrome, including two nonsense mutations (R43X and R217X), two splice-junction mutations, (189-1 G to T and 71+1G to A), and two frameshift mutations (46 del TT and 230 del TA or AT). Only one of these mutations, R43X, has been previously reported. Using haplotype analysis, we determined that this mutation, which involves a CpG dinucleotide hot spot, likely arose as a separate event in this case, relative to the two prior reports of R43X. Aside from R43X, the mutations we identified are unique to patients from particular geographic regions. Ten GHR gene mutations have now been described in thisdisorder. We conclude that Laron syndrome is caused by diverse GHR gene mutations, including deletions, RNA processing defects, translational stop codons, and missense codons. All the identified mutations involve the extracellular domain of the receptor, and most are unique to particular families or geographic areas.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 04:15:04