摘要
目的对1例多发性骨骺发育不良女性患者的软骨寡聚物基质蛋白(cartilageoligomericmatrixprotein,COMP)基因进行突变分析,为遗传咨询和产前分子诊断提供指导。方法采集患者血样,提取基因组DNA,用外显子序列捕获+第二代测序技术对COMP基因进行基因突变的检测并用聚合酶链反应结合Sanger法核苷酸序列测定进行突变位点验证。结果该患者COMP基因第9外显子存在C.956A〉T错义突变,其COMP基因第319位密码子由原来编码天冬氨酸的密码子GAC突变为编码缬氨酸的密码子GTC(P.Asp319Val)。SIFT功能预测该错义突变将影响蛋白结构。结论该患者发病是由cOMP基因c.956A〉T突变导致,该突变国内外未见报道。
Objective To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis. Methods Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing. Results A novel c. 956 A〉T resulting in substitution of Aspartic acid 319 for Valine (p. Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein. Conclusion A novel c. 956 A〉T substitution mutation has been identified in a patient featuring MED.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第3期322-325,共4页
Chinese Journal of Medical Genetics
基金
基金项目:深圳市科技计划重点项目(201001016)