摘要
目的 研究我国Ⅰ～Ⅳ型脊髓性肌萎缩症 (SMA)患者运动神经元生存基因 (SMN)及神经细胞凋亡抑制蛋白 (NAIP)基因外显子的缺失情况 ,以探讨此两种基因与SMA表型之间的关系。方法 应用PCR法检测 45例Ⅰ～Ⅳ型SMA患者、30例表型正常的SMA直系亲属及 30例正常对照的SMN基因第 7、8号外显子和NAIP基因第 5、6号外显子缺失情况。结果 7例Ⅰ型和Ⅱ型SMA患者中 6例纯合缺失SMN基因外显子 7和 8,1例纯合缺失外显子 7而保留外显子 8;8例Ⅲ型SMA患者仅1例缺失外显子 7和 8,余 7例均无SMN基因的缺失 ;成人型 (Ⅳ型 )SMA未检测到SMN基因缺失 ;45例Ⅰ～Ⅳ型SMA患者均未检测到NAIP基因外显子 5和 (或 ) 6的缺失。结论 Ⅰ型、Ⅱ型SMA可通过SMN基因第 7、8号外显子的检测进行确诊 ,Ⅲ型SMA患者SMN基因缺失率低 ,故通过检测SMN基因 7、8外显子进行基因诊断尚需谨慎 ,Ⅳ型SMA未检测到SMN基因缺失 ,发病可能与SMN基因缺失无关 ;
Objective To study the absence of survival motor neuron(SMN) gene exon 7,8 and neuronal apoptosis inhibitory protein(NAIP) gene exon 5,6 in Chinese patients with type Ⅰ～Ⅳ spinal muscular atrophy (SMA) and to confirm the relationship between the deletions of SMN ,NAIP and SMA phenotype. Methods PCR and PCR enzyme methods were used to detect the deletions of NAIP gene exon 5,6 and SMN gene exon 7,8 in 45 SMA (Ⅰ～Ⅳ) patients and 30 healthy relatives of the patients and 30 normal controls. Results Deletions of exon 7 and 8 of the telomeric SMN gene were 4/4, 2/3, 1/8 and 0/30 in type Ⅰ ,Ⅱ ,Ⅲ and Ⅳ SMA patients, respectively . One patient with type Ⅱ lacked the exon 7 but retained exon 8. No deletions was found in the relatives and controls(0/60). No deletions of exon 5and 6 of the NAIP gene was detected in all the patients、healthy relatives and controls. Conclusions Deletions of SMN gene exon 7 and 8 exa mined by PCR enzyme digestion could be recommended as an accurate gene diagnostic method for SMA with type Ⅰ and Ⅱ . However ,the method was not as useful in type Ⅲ as in Ⅰ and Ⅱ for making a diagnosis of SMA . Type Ⅳ SMA ,a heterogeneous disease with phenotypical similarities to type Ⅰ～Ⅲ SMA ,may be caused by deletion of other genes. The frequency of NAIP deletion was lower in Chinese SMA patients.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2001年第6期401-404,共4页
Chinese Journal of Internal Medicine
