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收稿日期：2012-05-14修回日期：2012-08-22编辑：刘劲

基因多态性与髋关节发育不良的相关性研究进展

侯华成1，2△，史冬泉2（综述），蒋青2※（审校）

（1．南京大学医学院，南京210093；2．南京大学医学院附属鼓楼医院关节中心，南京210008）

中图分类号：R684．2文献标识码：A文章编号：1006-2084（2013）02-0252-04 doi：10．3969/j．issn．1006-2084．2013．02．020

摘要：髋关节发育不良（DDH）是婴幼儿时期一种常见的骨科疾病，发病率为1ɢ 2ɢ。其是由股骨头和（或）髋臼的大小、形态、取向和（或）组织构成异常导致，通常指关节囊松弛和（或）髋臼太浅。DDH可导致膝关节不稳定、关节疼痛、步态异常及早发型骨性关节炎，因此早期预防、早期诊断和早期治疗显得尤为重要。预防该病必须了解病因，而遗传因素是DDH的重要病因之一。

关键词：髋关节发育不良；基因多态性；病例对照研究

Research Progress in the Association between Gene Polymorphism and Developmental Dysplasia of the Hip HOU Hua-cheng1，2，SHI Dong-quan2，JIANG Qing2．（1．Medical School of Nanjing University，Nanjing210093，China；2．The Center of Diagnosis and Treatment for Joint Disease，Nanjing Drum Tower Hospital Affiliated to Medical School of Nanjing University，Nanjing210008，China）

Abstract：Developmental dysplasia of the hip（DDH）is a common skeletal disease during the period of infant and child，and its morbidity is nearly1ɢ-2ɢ．Hip dysplasia refers to an anomaly in the size，shape，o-rientation，or organization of the femoral head，acetabulum，or both．This disease usually comprises shallow ac-etabulum and/or lax joint capsule．Hip instability，joint pain，gait abnormalities and premature arthritis are common clinical signs．It is important to prevent，diagnose and treat DDH as early as possible．More about the etiopathogenesis should be learned for the prevention，and genetic factor is one of the most important etiologi-cal factors of the disease．

Key words：Developmental dysplasia of the hip；Gene polymorphism；Case-control study

髋关节发育不良（devel-opmental dysplasia of the hip，DDH）表现为股骨头与髋臼的相对位置异常，主要原因为关节囊松弛和（或）髋臼太浅［1］。危险因素很多，包括臀先露、女性、巨大儿、多胎妊娠、首次妊娠、羊水过少、襁褓的使用［2］和遗传因素［3］。遗传学研究发现，DDH呈家族聚集倾向，双生子研究表明单卵双生同时发病率为41%，而双卵双生仅