Hallervorden-Spatz综合征PANK2基因的突变  

Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome

作　　者：张玉虎[1] 唐北沙[1] 郭纪锋[1] 龙志高[2] 夏昆[2] 潘乾[2] 胡正茂[2] 吴鼎文[2] 汤建光[1] 陈涛[1] 严新翔[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]中国医学遗传学国家重点实验室

出　　处：《中华医学遗传学杂志》2005年第2期189-191,共3页Chinese Journal of Medical Genetics

基　　金：国家863高技术研究发展计划资助(2002BA711A07;2001AA227011);国家自然科学基金(30370515);高等学校博士学科点专项科研基金(20020533024);湖南省自然科学基金(02JJY2042)~~

摘　　要：目的　探讨泛酸激酶2 (pantothenate kinase 2 ,PANK2 )基因突变与中国人Hallervorden-Spatz综合征(Hallervorden- Spatz syndrom e,HSS)的关系。方法　应用聚合酶链反应、DNA直接测序、PCR产物限制性内切酶酶切和聚合酶链反应-单链构象多态性等技术检测5例HSS患者、3名家系成员及5 1名正常人PANK2基因的碱基序列。结果　检测出PANK2基因一个新的复合杂合突变:位于第3外显子的A80 3G和第5外显子的T1172 A;同时检测出3个单核苷酸多态,位于5 '- UTR区的- 38t>a,第1内含子区的IVS1+42 c>a和第1外显子区的G77C,其中- 38t>a,IVS1+42 c>a为首次报道。结论　中国人HSS患者存在PANK2基因突变。Objective To study pantothenate kinase 2( PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome(HSS). Methods PANK2 gene mutations were detected by PCR, DNA sequence analyses,restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons. Results Novel compound heterozygous PANK2 gene mutations,A803G and T1172A,in exons 3 and 5, respectively,were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5′-UTR,IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a,IVS1+42 c>a,were first reported. Conclusion PANK2 gene mutations can cause HSS in Chinese patients.

关 键 词：综合征 聚合酶链反应-单链构象多态性 syndrome DNA直接测序 限制性内切酶 单核苷酸多态 基因突变 PCR产物 第5外显子 第3外显子 方法应用 技术检测 碱基序列 家系成员 同时检测 首次报道 HSS 正常人 中国 患者 子区 

分 类 号：R741[医药卫生—神经病学与精神病学]