Two brothers with a 7.0 kb gene deletion associated with isolated growth hormone deficiency type 1A.
J Pediatr Endocrinol Metab
; 9(3): 423-7, 1996.
Article
em En
| MEDLINE
| ID: mdl-8887154
ABSTRACT
Familial growth hormone deficiency type 1A is an autosomal recessive disease, caused by various homogenous deletions of both alleles of growth hormone gene 1 (hGH1). The hGH1 gene deletion is an event occurring between the 5' and the 3' flanking regions by unequal recombination, which causes a deletion in the hGH1 gene, mostly of 6.7 kb and rarely 7.6 or 7.0 kb in size. Two brothers diagnosed with GH deficiency syndrome were sent to our hospital for further evaluation. DNA samples of the probands and controls were amplified by PCR; restriction endonuclease analysis was done with Sma I enzyme and the patterns were evaluated. Gel electrophoresis results showed that the two brothers had a 7.0 kb deletion. These are the third and fourth cases reported with a 7.0 kb deletion. Both patients responded well to replacement therapy and did not develop antibodies against rGH. No other relatives presented with macro deletions in the hGH1 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção de Genes
/
Hormônio do Crescimento Humano
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article