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青少年特发性脊柱侧凸疾病候选基因SH3GL1外显子序列比对分析研究

Comparative analysis of sequence alignment of SH3GL1 gene as a disease candidate gene of adolescent idiopathic scoliosis

摘要:

目的 确定SH3GL1是否为青少年特发性脊柱侧凸(AIS)致病基因.方法 对2007年11月至2008年12月收治的56例AIS患者进行研究.其中男性15例,女性41例;年龄8~22岁,平均15岁;侧凸Cobb角25°~110°,平均67.5°.采取以家系为基础的"病例.同胞对照,病例-亲属对照"研究方案,根据AIS候选基因SH3GL1核酸序列,以10个外显子为重点设计引物对,进行PCR扩增、克隆和测序,用Vector NTI Advance 10.3进行序列对比分析,确定碱基突变的有无,并进行蛋白质结构预测分析.结果 共发现12处碱基变异,分别位于第2(3处)、4(1处)、5(4处)、6(1处)、8(1处)和10(2处,非编码区)6个外显子上.其中先证者mRNA第515位碱基如果为T,则形成终止密码子,导致蛋白阅读框发生改变,蛋白质序列预测分析显示编码截短蛋白,从而影响蛋白质的结构.结论 SH3GL1可能是AJS的致病基因之一.

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abstracts:

Objective To identify whether SH3GL1 gene serves as a disease associated gene of adolescent idiopathic scoliosis ( AIS). Methods Positioning candidate cloning:" case-sibling or case-family control design" research scheme based on family constellation was designed. Fifty-six AIS patients ( 15 male and 41 female, mean age 15 years old, ranged from 8 to 22 years old, Cobb angle from 25° to 110°, average Cobb angle of 67. 5°) from November 2007 to December 2008 were recruited. In all patients, blood preparation was collected, and genome DNA was extracted. According to nucleotide sequence of gene SH3GL1 , primer pair for PCR amplification, cloning, and sequencing with 10 exons as emphasis was designed. Sequence comparative analysis for exon sequencing result between sib pairs or family pairs, and that between sib pair or family pairs and NCBI ( National Center for Biotechnology Information) were conducted through Vector NTI Advance 10.3 software to judge whether basic group mutation occurred or not. Amino acid sequence comparative analysis for prediction was made. Results Ten exons of the candidate gene SH3GL1 were successfully amplified and cloned in genome DNA of an AIS sib pair and family pairs, and the sequencings obtained positive results. Twelve basic group mutations were found in 10 exons of the candidate gene SH3GL1 of patients with AIS. These mutations were located in the second exon (3 mutations) , the fourth exon (1 mutations), the fifth exon (4 mutations), the sixth exon (1 mutations), the eighth exon (1 mutations) , and the tenth exon (2 mutations, noncoding region). If basic group in 515 of mRNA was mutated to T, termination codon(TAG) came into being and open reading frame was altered. The sequence of protein showed brachytmema protein was encoded, which could cause changes of primary structure. Conclusion SH3GL1 is possibly one of the disease associated genes of AIS.

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作者: 杨滔 [1] 许建中 [1] 贾全章 [1] 郭宏 [1] 罗飞 [1] 叶青 [1] 白云 [1]
第一作者: 杨滔
期刊: 《中华外科杂志》2010年48卷6期 435-438页 MEDLINEISTICPKUCSCD
分类号: R6
栏目名称: 青少年特发性脊柱侧凸
DOI: 10.3760/cma.j.issn.0529-5815.2010.06.011
发布时间: 2010-06-08
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