[Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosis].
OBJECTIVE
To identify the mutation of Cu/Zn superoxide dismutase(SOD1) gene in an amyotrophic lateral sclerosis (ALS) family with unique phenotype.


METHODS
Five exons of SOD1 gene were amplified by PCR. The differences of these products were analyzed by PCR-single strand conformation polymorphism and visualized by silver staining.


RESULTS
Abnormal bands were found in exons 2 and 5 of SOD1 gene in several familial members. DNA sequence analysis verified that a base pair insertion occurred in the codon area of exon 2 and in the intron area of exon 5. And the insertion mutation of exon 2 led to a frameshift mutation and premature stop. It is a new type of SOD1 mutation which may be associated with familial amyotrophic lateral sclerosis.


CONCLUSIONS
Insertion mutation of exon 2 may be responsible for the disease of an ALS family in Chongqing.
Shi
Shu-gui
SG
Department of Neurology, Southwest Hospital, Third Military Medical University, Chongqing, 400038 PR China. shishg@mail.tmmu.com.cn
Li
Lu-si
LS
Chen
Kang-nin
KN
Liu
Xing
X
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1