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Mutation of Kisspeptin 1 Gene in Children With Precocious Puberty in Isfahan City Publisher



Mazaheri A1 ; Hashemipour M1 ; Salehi M2 ; Behnam M2 ; Hovsepian S3 ; Hassanzadeh A4
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Authors Affiliations
  1. 1. Department of Pediatrics Endocrinology, Isfahan Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Department of Genetics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non- Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Department of Epidemiology and Biostatistics, School of Public Health, Isfahan University of Medical Sciences Isfahan, Iran

Source: International Journal of Preventive Medicine Published:2015


Abstract

Background: Considering the role of kisspeptin (KISS) in the process of puberty, this study aimed to determine the mutation of KISS1 gene among a group of patients with idiopathic central precocious puberty (ICPP). Methods: In this case control study, a group of children with diagnosed ICPP and a group of healthy children were selected. Genomic DNA was extracted from peripheral blood of selected population. After proving the quality and quantity of extracted DNA samples by nano‑drop instrument, PCR was performed using 3 set of primers to amplify all coding exons and flanking intron region of Kiss1 gene. Results: In this study, 33 patients with idiopathic PP and 30 control age and sex matched children were studied. Genetic analysis indicated that there was not any polymorphism or mutation in studied participants of the control group. Among patients with ICPP, 4 single nucleotide polymorphisms within the promoter and coding regions of KISS1 gene were determined in 9 patients (5 boys and 4 girls). Among them, the c.‑148 T > A was novel variant. Conclusions: The results of the current study identified one novel polymorphism and three reported polymorphism in KISS gene among patients with ICPP. It is recommended to design further studies for analysis other genes related to ICPP in accordance with more complementary biochemical evaluations is recommended also. © 2015 Kakrani VA.
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