摘要
目的 探讨聚合酶链反应 限制性片段长度多态性分析 (PCR RFLP)技术在儿童型脊髓性肌萎缩症 (SMA)基因诊断中的价值。方法 应用PCR RFLP技术对 2 0例Ⅰ～Ⅲ型SMA患者及15名健康人进行SMN基因第 7、第 8号外显子的缺失检测。结果 7例Ⅰ型SMA患者的SMN基因第 7、第 8外显子全部缺失 ;Ⅱ型SMA患者 5例 ,其SMN基因第 7外显子全部缺失 ,第 8外显子有 4例缺失 ;而在 8例Ⅲ型患者中只有 1例检出第 7、第 8外显子缺失 ;所有健康人均无SMN基因第 7、第8外显子的缺失。结论 PCR RFLP技术可作为诊断Ⅰ、Ⅱ型SMA的有效手段 ,而Ⅲ型SMA患者的基因诊断尚需谨慎。
Objective To study the value of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in gene diagnosis on spinal muscular atrophy (SMA).Methods PCR-RFLP method was used to detect the homozygous deletion of the exon 7 or exon 8 of SMN gene in 20 SMA patients of Type Ⅰ,Ⅱ,Ⅲ and 15 normal individuals.Results Homozygous deletion of exon 7 and exon 8 of the SMN gene were all identified 7/7 in SMA TypeⅠpatients, and 5/5 and 4/5 respectively in SMA Type Ⅱ patients, but only 1/8 of SMA Type Ⅲ patients, and no homozygous deletion was found in the normal controls.Conclusions PCR-RFLP might be recommended as an effective diagnosis for spinal muscular atrophy Type Ⅰand Ⅱ patients, whereas the method might not be as useful in Type Ⅲ as in Type Ⅰand Ⅱ for the gene diagnosis.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2003年第6期425-427,共3页
Chinese Journal of Neurology
基金
国家自然科学基金资助项目 (3 0 170 3 3 0 )
