A Turkish family with 6.7 Kb deletion associated with isolated growth hormone deficiency type 1A
Korkmaz, K.S.; Sercan, O.H.; Yazicioğlu, M.V.; Sakizli, M.; Darcan, S.; Büyükgebiz, A.
Turkish Journal of Pediatrics 39(1): 99-104
1997
ISSN/ISBN: 0041-4301 PMID: 10868200 Document Number: 483346
Familial growth hormone deficiency type 1 A is on 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 germ 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 we a evaluated. Our gel electrophoresis results show that the gone deletion pattern of the patient represents a homogenous 6.7 kb deletion, while her parents had a heterogeneous 6.7 kb deletion pattern.