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" Mutation of KISS1 gene in children with precocious puberty in Isfahan city "
/علی مظاهری
; Mahin Hashemipour
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Isfahan University of Medical Sciences
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| Document Type
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Latin Dissertation
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| Language of Document
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English
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| Record Number
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103449
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| Doc. No
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T15067
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| Call number
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WS,450,M475m,2014
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| Main Entry
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Mazaheri, Ali
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| Title & Author
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Mutation of KISS1 gene in children with precocious puberty in Isfahan city/علی مظاهری
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| College
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Schools, Medical
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| Date
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, 2014
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| Degree
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Pedicatics, Speciality
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| Page No
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10 p.: tab.
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| Note
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This thesis is a research project with project ID: 192146
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| Abstract
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Background: Considering the crucial role of kisspeptine in the pathogenesis of Idopathic Central Precocious puberty (ICPP), higher proportion of Iranian patients with ICPPas well as racial and ethnical differences, this study aimed to determine the mutation of kisspeptine gene(KISS1) among a group of patients with ICPP. Materials and 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 control group .Among patients with ICPP , 4 SNPs 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. Conclusion: The results of current study identified one novel polymorphism and three reported polymorphism in kisspeptin gene among patients with ICPP.Further studies should be designed with considering the limitations of current study. More studies for analysis other genes related to ICPP in accordance with more complementary biochemical evaluations is recommended also.
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| Descriptor
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1. Precocious Puberty, Central.- Descriptors: Precocious Puberty, Central
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Kisspeptins
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child
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Mutation
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| Added Entry
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Hashemipour, Mahin, Supervisor
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