聚合酶链反应-限制性片段长度多态性分析技术在儿童型脊髓性肌萎缩症基因诊断中的应用  

PCR-RFLP in gene diagnosis of spinal muscular atrophy

作　　者：吴志国[1] 肖波[1] 杨晓苏[1] 张丽芳[2] 梁静慧[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]长治医学院和平医院神经内科

出　　处：《中华神经科杂志》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 )

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.

关 键 词：PCR-RFLP 儿童型 脊髓性肌萎缩症 基因诊断 基因缺失 常染色体隐性遗传病 

分 类 号：R748[医药卫生—神经病学与精神病学]