先天性骨骼发育不良的分子遗传学研究进展  

Research progress in the molecular genetics of congenital skeletal dysplasia

作　　者：齐科研[1] 杨锴 王一鹏[1] Qi Keyan;Yang Kai;Wang Yipeng(Prenatal Diagnosis Cernter,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院产前诊断中心,北京100026

出　　处：《中国组织化学与细胞化学杂志》2023年第1期101-108,114,共9页Chinese Journal of Histochemistry and Cytochemistry

基　　金：中国博士后科学基金第15批特别资助(2022T150445)。

摘　　要：先天性骨骼发育不良(skeletal dysplasia,SD)是出生缺陷的重要组成部分,是包括骨骼生长发育异常的一系列疾病。由于骨骼分布广泛,由胎儿骨骼发育异常导致的骨骼畸形种类繁多,分类复杂。根据最近一版的《国际遗传性骨病的分类标准》,本文将就先天性骨骼发育不良的分类、分子机制、遗传学诊断进行综述。Skeletal dysplasia(SD),sharing an important proportion in congenital birth defects,is a series of diseases including abnormal growth and development of the bone.Due to the wide distribution of bone,there are many kinds of bone malformations caused by fetal bone development abnormality with a complex classification.According to the latest edition of nosology and classifi­cation of genetic skeletal disorders,we review in this article about the classification,molecular mechanism,and genetic diagnosis of skeletal dysplasia.

关 键 词：先天性骨骼发育不良 分类 分子机制 遗传诊断 

分 类 号：R321[医药卫生—人体解剖和组织胚胎学]