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目的对温州地区14个脊髓性肌萎缩症患者进行临床表型分析,并为其家庭提供产前分子诊断评估再生育风险。方法运用多重连接依赖性探针扩增技术(MLPA)技术对14个家系行生存运动神经元基因(survival motor neuron,SMN)及其他SMA致病相关基因拷贝数检测,并结合限制性酶切片段长度多态性聚合酶链式反应(PCR-RFLP)和STR位点检测对该14个家系16例胎儿行产前诊断。结果 14例家系中,先证者Ⅰ型8例,Ⅱ型5例,Ⅲ型1例,MLPA结果显示,6例胎儿正常,7例为携带者,3例为患者。PCR-RFLP检测结果与MLPA检测结果一致。STR位点检测结果显示,有两例绒毛样本存在轻微母源DNA污染,其余标本均未受到母源DNA的污染。结论采用MLPA技术,联合PCR-RFLP法及STR位点检测法对SMA家系行产前分子诊断,具有快速准确等优点,可有效避免SMA患儿出生。
Objective To analyze the clinical phenotypes of 14 patients with spinal muscular atrophy in Wenzhou and provide prenatal molecular diagnosis to their families to assess the risk of recurrence. Methods Multiplexed-dependent probe amplification (MLPA) technique was used to detect the copy number of survival motor neurons (SMNs) and other SMA-associated genes in 14 pedigrees. Combined with restriction fragment analysis Length polymorphism polymerase chain reaction (PCR-RFLP) and STR locus detection of the fourteen families of 16 fetuses prenatal diagnosis. Results Among the 14 pedigrees, probands included 8 cases of type Ⅰ, 5 cases of type Ⅱ and 1 case of type Ⅲ. The results of MLPA showed that 6 cases of fetus were normal, 7 cases were carriers and 3 cases were patients. PCR-RFLP test results and MLPA test results. STR loci test results showed that there were two cases of villus samples with slight maternal DNA contamination, the remaining samples were not contaminated by maternal DNA. Conclusion MLPA technique, combined with PCR-RFLP method and STR locus detection method for SMA family prenatal molecular diagnosis, with fast and accurate, etc., can effectively avoid the birth of SMA children.