X-连锁迟发性脊椎骨骺发育不良家系基因突变研究  

Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda

作　　者：朱海燕[1] 李洁[1] 朱瑞芳[1] 吴星[1] 段红蕾[1] 杨滢[1] 张颖[1] 胡娅莉[1] 

机构地区：[1]南京大学医学院附属鼓楼医院产前诊断中心遗传室,210008

出　　处：《中华医学遗传学杂志》2008年第4期421-423,共3页Chinese Journal of Medical Genetics

基　　金：江苏省医学重点学科项目（XK200709）;南京市医学科技发展重点项目（基因病产前诊断技术平台的建立）

摘　　要：目的研究X-连锁迟发性脊椎骨骺发育不良（X-linked spondyloepiphyseal dysplasia tarda，SEDL）患者的发病机理，并探讨该病的快速基因诊断方法。方法应用逆转录聚合酶链反应，结合序列分析方法，对一个X-SEDL家系2例患者及育龄女性进行SEDL基因突变分析。结果cDNA序列分析显示患者为G209A突变，并对突变所在第4外显子进行PCR扩增并测序进一步证实。患者女儿为该突变的携带者。结论由于SEDL基因较小，直接对患者提取总RNA，逆转录后直接进行PCR扩增、测序，可直接发现基因阅读框内的多种类型的突变，相对于针对每一个外显子单独扩增检测更加直接、快速。Objective To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda（SEDL） family. Methods Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR （RT-PCR） and sequence analysis. Results A G209A mutation of SEDL gene was detected in the eDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation. Conclusion Since the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected directly by eDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.

关 键 词：X-连锁迟发性脊椎骨骺发育不良 SEDL基因 基因诊断 

分 类 号：R686[医药卫生—骨科学]