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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 investigate the relationship between pantothenate kinase 2 (PANK2) gene mutation and Hallervorden-Spatz Syndrome (HSS) in Chinese. Methods Five HSS patients, three pedigree members and 51 normal controls were detected by polymerase chain reaction, direct DNA sequencing, PCR product restriction endonuclease digestion and polymerase chain reaction - single strand conformation polymorphism. The base sequence of PANK2 gene. Results A new complex heterozygous mutation of PANK2 gene was detected: A80 3G located on exon 3 and T1172 A on exon 5. Three single nucleotide polymorphisms (SNPs) were detected in the 5 ’- UTR region - 38t> a, IVS1 + 42c> a in the first intron region and G77C in the first exon region, with -38t> a and IVS1 + 42c> a being the first reported. Conclusions PANK2 gene mutation exists in HSS patients in China.