Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome.
- Author:
Yuhu ZHANG
1
;
Beisha TANG
;
Jifeng GUO
;
Zhigao LONG
;
Kun XIA
;
Qian PAN
;
Zhengmao HU
;
Dingwen WU
;
Jianguang TANG
;
Tao CHEN
;
Xinxiang YAN
Author Information
- Publication Type:Journal Article
- MeSH: 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
- From: Chinese Journal of Medical Genetics 2005;22(2):189-191
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).
METHODSPANK2 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.
RESULTSNovel 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.
CONCLUSIONPANK2 gene mutations can cause HSS in Chinese patients.
