A Turkish family with 6.7 kb deletion associated with isolated growth hormone deficiency type 1A


KORKMAZ K. S. , SERCAN O., YAZICIOGLU M., SAKIZLI M., Darcan S. , BUYUKGEBIZ A.

TURKISH JOURNAL OF PEDIATRICS, vol.39, no.1, pp.99-104, 1997 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 1
  • Publication Date: 1997
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.99-104

Abstract

Familiar growth hormone deficiency type 1A is an autosomal recessive disease caused by homogenous deletions of both alleles of growth hormone gene 1 (hGH1) in various patterns. The hGH1 gene deletion Is an event that probably occurs between the 5' and 3' flanking regions by unequal recombination, and results in deletion of the hGH1 gene in different patterns. Deletions are mostly 6.7 kb and rarely 7.0 kb, 7.6 kb and 45 kb In size. A four-year-old girl diagnosed with growth hormone deficiency syndrome was send to us for further evaluation. DNA samples of the patient, her parents and controls were amplified by polymerase chain reaction (PCR); furthermore, restriction endonuclease analysis was done with Sma I enzyme and the patterns were evaluated. Our gel electrophoresis results show that the gene deletion pattern of the patient represents a homogenous 6.7 kb deletion, while her parents had a heterogeneous 6.7 kb deletion pattern.