软骨源性视黄酸敏感蛋白基因在先天性马蹄内翻足中的表达  

Expression of cartilage-derived retinoic acid sensitive protein gene in muscular tissue from patients with congenital clubfoot

作　　者：李连永[1] 刘丽英[3] 赵群[1] 孙开来[2] 金春莲[2] 

机构地区：[1]中国医科大学附属盛京医院小儿骨科,沈阳110004 [2]中国医科大学附属盛京医院遗传学教研室,沈阳110004 [3]沈阳市妇婴医院生殖医学中心

出　　处：《中华小儿外科杂志》2009年第8期551-554,共4页Chinese Journal of Pediatric Surgery

基　　金：基金项目：国家重点基础研究发展规划项目（编号：2001CB510301）;国家自然科学基金资助项目（编号：30471803）

摘　　要：目的探讨先天性马蹄内翻足肌肉组织中的软骨源性视黄酸敏感蛋白（cartilage-de—rivedretinoicacidsensitiveprotein，CD-RAP）基因的表达是否存在异常。方法留取25例先天性马蹄内翻足患儿行Mckay松解术时切除的足外展拇肌，5例正常对照组织标本来源于3例创伤、1例足月引产胎儿及1例尸检（均经本院的医学伦理委员会批准）。采用半定量RTPCR方法检测马蹄内翻足及正常外展拇肌中CDRAP基因mRNA的表达情况。结果半定量RT-PCR研究表明马蹄内翻足患儿足外展拇肌组织中CD-RAP基因与13-actin基因平均密度（ADV）比值为0．376±0．241，相应正常组织二者比值为0．067±0．033，两组间差异具有统计学意义（t=6．143，P〈0．001）。结论先天性马蹄内翻足患儿足外展拇肌组织中CDRAP基因表达水平明显高于正常对照组，表明先天性马蹄内翻足患儿足外展拇肌组织中的CDRAP基因表达上调，CD-RAP基因或其调节基因可能与先天性马蹄内翻足的发生有关。Objective To evaluate the expression level of cartilage-derived retinoic acid-sensitive protein （CDRAP） in muscular tissue from patients with congenital clubfoot （CCF）. Methods Specimens of abductor hallucis muscle were collected from twenty-five patients with CCF underwent Mckay procedure. The five normal muscular specimens （3 from trauma, 1 odinopoeia and 1 autopsy） were collected as control. CD-RAP mRNA was extracted from the muscular tissue, and the expression of CD-RAP in CCF and normal tissue was detected by semi-quantitative RT PCR. Results Semi-quanti tative RT-PCR results showed that the average density value （ADV） of CD-RAP/β-actin in CCF tissue was 0. 376±0. 241 in diseased group, while that was 0. 067 ± 0. 033 in normal tissue. The expression of CD-RAP gene was higher in the muscular tissue of CCF than that of in normal tissue （t = 6. 143,P 〈0. 001 ）. Conclusions The over-expression of CD-RAP gene in the muscular tissue is associated with CCF. CD-RAP gene or its regulator genes might be the susceptibility gene of CCF.

关 键 词：马蹄足畸形 基因表达 逆转录聚合酶链反应 

分 类 号：R686[医药卫生—骨科学]