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MKRN3基因与儿童中枢性性早熟
引用本文:石玉兰,贵子豪,郭冰冰,徐高生,莫中成. MKRN3基因与儿童中枢性性早熟[J]. 南华大学学报(医学版), 2019, 0(6): 566-570
作者姓名:石玉兰  贵子豪  郭冰冰  徐高生  莫中成
作者单位:南华大学衡阳医学院应用解剖与生殖医学研究所,南华大学 岳阳市妇幼保健院基础与 临床协同研究生培养创新实践基地,组织学与胚胎学教研室,湖南 衡阳 421001;邵阳学院附属第二医院儿科,湖南 邵阳 422000,南华大学衡阳医学院应用解剖与生殖医学研究所,南华大学 岳阳市妇幼保健院基础与 临床协同研究生培养创新实践基地,组织学与胚胎学教研室,湖南 衡阳 421001,南华大学衡阳医学院应用解剖与生殖医学研究所,南华大学 岳阳市妇幼保健院基础与 临床协同研究生培养创新实践基地,组织学与胚胎学教研室,湖南 衡阳 421001,南华大学衡阳医学院应用解剖与生殖医学研究所,南华大学 岳阳市妇幼保健院基础与 临床协同研究生培养创新实践基地,组织学与胚胎学教研室,湖南 衡阳 421001,南华大学衡阳医学院应用解剖与生殖医学研究所,南华大学 岳阳市妇幼保健院基础与 临床协同研究生培养创新实践基地,组织学与胚胎学教研室,湖南 衡阳 421001;邵阳学院附属第二医院儿科,湖南 邵阳 422000
摘    要:中枢性性早熟是一种常见的儿童性发育异常性疾病,其发病机制暂不明确。环指蛋白3基因的功能丧失性突变是中枢性性早熟的重要致病因素。在目前已证实的中枢性性早熟相关致病基因中,环指蛋白3基因所致性早熟的发病率相对较高。本文综述了环指蛋白3基因的结构,突变,以及对于青春期时间可能的影响。

关 键 词:环指蛋白3基因  LIN28B基因  促性腺激素释放激素  Nptx1神经元
收稿时间:2019-07-06
修稿时间:2019-09-02

MKRN3 gene and central precocious puberty
SHI Yulan,GUI Zihao,GUO Bingbing,XU Gaosheng and MO Zhongcheng. MKRN3 gene and central precocious puberty[J]. Journal of Nanhua University(Medical Edition), 2019, 0(6): 566-570
Authors:SHI Yulan  GUI Zihao  GUO Bingbing  XU Gaosheng  MO Zhongcheng
Affiliation:Clinical Anatomy & Reproductive Medicine Application Institute, Hunan Province Innovative Training Base for Medical Postgraduates, University of South China and Yueyang Women & Children''s Medical Center, Department of Histology and Embryology, University of South China, Hengyang 421001, Hunan,China;the Department of Pediatrics in The Second Affiliated Hospital of Shaoyang University, Shanoyang 422000, Hunan,China,Clinical Anatomy & Reproductive Medicine Application Institute, Hunan Province Innovative Training Base for Medical Postgraduates, University of South China and Yueyang Women & Children''s Medical Center, Department of Histology and Embryology, University of South China, Hengyang 421001, Hunan,China,Clinical Anatomy & Reproductive Medicine Application Institute, Hunan Province Innovative Training Base for Medical Postgraduates, University of South China and Yueyang Women & Children''s Medical Center, Department of Histology and Embryology, University of South China, Hengyang 421001, Hunan,China,Clinical Anatomy & Reproductive Medicine Application Institute, Hunan Province Innovative Training Base for Medical Postgraduates, University of South China and Yueyang Women & Children''s Medical Center, Department of Histology and Embryology, University of South China, Hengyang 421001, Hunan,China and Clinical Anatomy & Reproductive Medicine Application Institute, Hunan Province Innovative Training Base for Medical Postgraduates, University of South China and Yueyang Women & Children''s Medical Center, Department of Histology and Embryology, University of South China, Hengyang 421001, Hunan,China;the Department of Pediatrics in The Second Affiliated Hospital of Shaoyang University, Shanoyang 422000, Hunan,China
Abstract:Central precocious puberty (CPP) is a common childhood sexual dysplasia, but its pathogenesis is not clear. The loss-of-function mutation of makorin ring finger protein-3 (MKRN3) gene is an important factor, which is associated with central precocious puberty. MKRN3 owns higher incidence of precocious puberty in all related genes which have been identified. This article reviews the structure, mutations of MKRN3 gene and the possible effects in puberty.
Keywords:
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