中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
3期
322-325
,共4页
王辉%谢建生%吴维青%徐志勇%罗福薇%耿茜
王輝%謝建生%吳維青%徐誌勇%囉福薇%耿茜
왕휘%사건생%오유청%서지용%라복미%경천
多发性骨骺发育不良%软骨寡聚物基质蛋白%基因突变
多髮性骨骺髮育不良%軟骨寡聚物基質蛋白%基因突變
다발성골후발육불량%연골과취물기질단백%기인돌변
Multiple epiphyseal dysplasia%Cartilage oligomeric matrix protein%Gene mutation
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(cartilage oligomeric matrix protein,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.
目的 對1例多髮性骨骺髮育不良女性患者的軟骨寡聚物基質蛋白(cartilage oligomeric matrix protein,COMP)基因進行突變分析,為遺傳咨詢和產前分子診斷提供指導.方法 採集患者血樣,提取基因組DNA,用外顯子序列捕穫+第二代測序技術對COMP基因進行基因突變的檢測併用聚閤酶鏈反應結閤Sanger法覈苷痠序列測定進行突變位點驗證.結果 該患者COMP基因第9外顯子存在c.956A＞T錯義突變,其COMP基因第319位密碼子由原來編碼天鼕氨痠的密碼子GAC突變為編碼纈氨痠的密碼子GTC(p.Asp319Val).SIFT功能預測該錯義突變將影響蛋白結構.結論 該患者髮病是由COMP基因c.956A＞T突變導緻,該突變國內外未見報道.
목적 대1례다발성골후발육불량녀성환자적연골과취물기질단백(cartilage oligomeric matrix protein,COMP)기인진행돌변분석,위유전자순화산전분자진단제공지도.방법 채집환자혈양,제취기인조DNA,용외현자서렬포획+제이대측서기술대COMP기인진행기인돌변적검측병용취합매련반응결합Sanger법핵감산서렬측정진행돌변위점험증.결과 해환자COMP기인제9외현자존재c.956A＞T착의돌변,기COMP기인제319위밀마자유원래편마천동안산적밀마자GAC돌변위편마힐안산적밀마자GTC(p.Asp319Val).SIFT공능예측해착의돌변장영향단백결구.결론 해환자발병시유COMP기인c.956A＞T돌변도치,해돌변국내외미견보도.
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.
