摘要
目的 分析神经节苷酯诱导分化相关蛋白 1( ganglioside- induced differentiation- associatedprotein- 1,GDAP1)基因在中国人腓骨肌萎缩症的突变特点。方法 应用多聚酶链反应 -单链构象多态性分析结合 DNA直接测序的方法 ,对 8个常染色体隐性遗传的腓骨肌萎缩症家系先证者和 15个散发病例共 2 3例患者进行了 GDAP1基因 6个外显子及其侧翼区的突变检测。结果 在 1个常染色体隐性遗传家系中发现 GDAP1基因的 A5 33G、A76 7G的复合杂合突变。纯合、杂合 T5 0 7G为人群常见多态。结论 GDAP1基因 A5 33G、A76
Objective To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients. Methods Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients. Results A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population. Conclusion A533G and A767G of GDAP1 gene were new mutations firstly reported.
出处
《中华医学遗传学杂志》
CAS
CSCD
2004年第3期207-210,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金 (3990 0 0 4 7)
国家 863计划项目(2 0 0 1 AA2 2 70 1 1 )~~
