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

Abstract

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.

• Authors: Yuhu Zhang, Beisha Tang, Jifeng Guo, Zhigao Long, Kun Xia, Qian Pan, Zhengmao Hu, Dingwen Wu, Jianguang Tang, Tao Chen, Xinxiang Yan
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 22 Issue 2 Pg. 189-91 (Apr 2005) ISSN: 1003-9406 [Print] China
• PMID: 15793782 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phosphotransferases (Alcohol Group Acceptor)
• pantothenate kinase

Topics

• Adolescent
• Adult
• Base Sequence
• Child
• China
• DNA Mutational Analysis
• Female
• Humans
• Male
• Middle Aged
• Mutation
• Pantothenate Kinase-Associated Neurodegeneration (genetics)
• Pedigree
• Phosphotransferases (Alcohol Group Acceptor) (genetics)
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Young Adult