[Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].
OBJECTIVE
To investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP.


METHODS
Mutation of spastin gene was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 31 unrelated affected HSP individuals in China, of whom 22 were from autosomal dominant families and 9 were sporadic HSP patients. Co-segregation analysis was carried out after the finding of abnormal SSCP bands.


RESULTS
Six cases were found to have abnormal SCP bands, and among them, two missense mutations (T1258A, A1293G in exon 8) and one deletion mutation (1667delACT or 1668delCTA or 1669delTAC in exon 14) were found and all of them were not reported previously. They were all co-segregated with the disease and were localized within the functional domain of spastin gene. Besides, T1258A was seen in two unrelated families.


CONCLUSIONS
The mutation rate (18.2%) in autosomal dominant HSP in Chinese patients is comparatively low. Point mutation is the major mutation type and exon 8 may be the mutation hot spot.
Zhao
Guo-hua
GH
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Tang
Bei-sha
BS
Luo
Wei
W
Xia
Kun
K
Zhuang
Mao-you
MY
Kong
Fan-bin
FB
Yan
Xin-xiang
XX
Deng
Han-xiang
HX
Xiao
Jian-feng
JF
Xia
Jia-hui
JH
D000251:Adenosine Triphosphatases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human