假肥大型肌营养不良基因突变检测方法的应用比较  

Comparison of methods in detection of dystrophin gene mutation in Duchenne/Becker muscular dystrophy

作　　者：杜文津[1] 万琪[2] 陈晋文[1] 吴保仁[3] 

机构地区：[1]空军总医院南楼神经科,北京100142 [2]江苏省人民医院神经内科 [3]第四军医大学附属西京医院神经内科

出　　处：《卒中与神经疾病》2010年第5期289-292,共4页Stroke and Nervous Diseases

摘　　要：目的比较假肥大型肌营养不良基因突变各种检测方法的优缺点,为不同条件下选择最佳的检测方案提供借鉴。方法分别应用18对引物多重PCR和5×4DNA微阵列对30例假肥大型肌营养不良患者进行dystrophin基因(缺失)检测分析,并结合文献中的方法进行应用比较。结果 30例假肥大型肌营养不良患者中有21例至少存在一个外显子片段缺失,占总例数的70%;9例未被检测到缺失,点30%。末检测到全部缺失的患者。PCR、DNA微阵列检测结果一致。结论对于假肥大型肌营养不良患者及携带者可选择MLPA检测缺失和重复突变,对于阴性者再利用PCR联合DHPLC结合测序检测点突变。经济方案是先选择18对引物定量PCR或DNA微阵列检测常见外显子缺失和重复突变,对于阴性者再用MLPA检测其它外显子缺失和重复突变。对于可疑胎儿产前诊断行MLPA或PCR-STR连锁分析。Objective To compare the specialties of some methods in detection of dystrophin gene mutation in DMD/BMD.Methods Thirty patients with DMD/BMD were screened with multiplex-PCR using eighteen pairs of primers,as well as with DNA microarray of 5×4 array.We compared these methods.Results Different exon deletions were detected in twenty-one cases（70%）,and not in nine cases（30%）.All exon deletions was not detected in patients.The results of mPCR and that of DNA microarray were identical.Conclusions Patients and carriers with DMD/BMD are screened with MLPA for detecting deletion and duplication.If it is negative,PCR with DHPLC and sequencing will be used for point mutation.The quantitative PCR with eighteen pairs of primers or DNA microarray is a economic way for the main deletion and duplication prone exons.If it is negative,MLPA will be uesd for the others.MLPA and PCR-STR analysis are used for pregnancy at risk of having a DMD/BMD baby.

关 键 词：假肥大型肌营养不良 基因突变 多重聚合酶链反应 DNA微阵列 

分 类 号：R685[医药卫生—骨科学] R741[医药卫生—外科学]