title: A Turkish family with 6.7 Kb deletion associated with isolated growth hormone deficiency type 1A.
abstract: Familial 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.
authors.affiliation: Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir.
authors.forename: K S
authors.initials: KS
authors.lastname: Korkmaz
authors.forename: O H
authors.initials: OH
authors.lastname: Sercan
authors.forename: M V
authors.initials: MV
authors.lastname: Yazicioğlu
authors.forename: M
authors.initials: M
authors.lastname: Sakizli
authors.forename: S
authors.initials: S
authors.lastname: Darcan
authors.forename: A
authors.initials: A
authors.lastname: Büyükgebiz
mesh_terms: D002675:Child, Preschool; D004262:DNA Restriction Enzymes / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D005784:Gene Amplification; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics*; D006579:Heterozygote; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D010290:Parents; D016133:Polymerase Chain Reaction; D014421:Turkey
chemical_list: D019382:Human Growth Hormone; D004262:DNA Restriction Enzymes