Two brothers with a 7.0 kb gene deletion associated with isolated growth hormone deficiency type 1A

Sercan O., KORKMAZ K. S., Yazicioglu M., Sakizli M., Buyukgebiz A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.9, sa.3, ss.423-427, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 3
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1515/jpem.1996.9.3.423
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.423-427
  • Anahtar Kelimeler: isolated GH deficiency type 1A, 7.0 kb gene deletion, PCR, anti-GH antibody, POLYMERASE CHAIN-REACTION, CLUSTER, HETEROGENEITY
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.