ECE2009 Poster Presentations Paediatric Endocrinology (18 abstracts)
Genetic characterization of children with isolated growth hormone deficiency in Turkish population
Ahmet Arman 1 , Ajda Coker 2 , Ergun Cetinkaya 3 , Bumin Dundar 4 , Zeynep Siklar 5 , Ozlem Sarioz 6 & Atilla Buyukgebiz 7
1The Faculty of Engineering, Marmara University, Istanbul, Turkey; 2The Department of Molecular Biology and Genetics, Kultur University, Istanbul, Turkey; 3The Department of Pediatric Endocrinology, SB Ankara Diskapi Children Hospital, Ankara, Turkey; 4The Department of Pediatric Endocrinology, Suleyman Demirel University, Isparta, Turkey; 5The Department of Pediatric Endocrinology, Ankara University, Ankara, Turkey; 6The Department of Biology, Marmara University, Istanbul, Turkey; 7The Department of Pediatric Endocrinology, Acibadem Hospital, Istanbul, Turkey.
Background: Isolated growth hormone deficiency (IGHD) is a condition associated with the growth failure of children due to deficient growth hormone (GH) production and action. IGHD occurs in 1/4000 to 1/10 000 births and the most of cases are sporadic and idiopathic. Between 5 and 30% show familial pattern, suggesting a genetic etiology of disease. Mutations on GH-1 gene lead to growth failure and cause IGHD disease.
Objective: Purpose of our research was to characterize mutations on GH-1 gene in children with IGHD in Turkish population.
Methods: Seventy-five Turkish children who were diagnosed to have IGHD were included in this study. DNAs were isolated from patient and specific exon and exon/intron regions of GH-1 gene were amplified with PCR using specific primers. The PCR products for exons and exon/intron boundaries for GH-1 gene were sequenced.
Results: We analyzed the GH-1 gene for mutations in seventy-five patients with IGHD. We previously reported five mutations on GH-1 gene. Furthermore, we defined three more mutations on the GH-1 gene and these are GAAA insertion in the intron 1 and deletions of +83 C residue in the intron 1 and TTC codon-encoding F166 at exon 5 of GH-1 gene. These mutations are heterozygote and also novel.
Precise conclusions: One insertion (GAAA) and two deletion mutations were detected in Turkish population and these mutations are novel.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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