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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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)~~
