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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 advantages and disadvantages of various detection methods for the gene mutation of Duchenne muscular dystrophy, and provide reference for the selection of the best detection scheme under different conditions. Methods 18 pairs of primer multiplex PCR and 5 × 4 DNA microarray were used to detect the dystrophin gene (deletion) in 30 cases of Duchenne muscular dystrophy, and compared with the methods in the literature. Results There were at least one exon deletion in 21 of 70 hypertrophic muscular dystrophy patients, accounting for 70% of the total cases; 9 cases were undetected, with 30% of them. At the end of the detection of all missing patients. PCR, DNA microarray test results are consistent. Conclusions MLPA detection of deletion and repeated mutations in patients with DLMD and their carriers may be used to detect point mutations in PCR-negative DHPLC-negative patients. Economic program is to first select 18 pairs of primer quantitative PCR or DNA microarray detection of common exon deletions and repeated mutations, and negative for MLPA again detect other exon deletions and repeated mutations. MLPA or PCR-STR linkage analysis for suspicious fetal prenatal diagnosis.