[Mutation and polymorphism in exon 4 of tuberous sclerosis complex gene].
OBJECTIVE
To study the characteristic of mutation and polymorphism in exon 4 of tuberous sclerosis complex gene(TSC1) in Chinese.


METHODS
Twenty-five TSC patients and 23 parents from 21 families were enrolled. The mutation of exon 4 in these subjects was identified by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and further confirmed by direct sequencing.


RESULTS
The normal controls had the same SSCP bands. In 25 TSC patients, a sporadic case was found to display variant banding pattern and be heterozygous for 352 insA mutation by sequencing. In 23 parents who were normal on clinical examination, another bandshift was found on a mother who had two affected children, which was confirmed as 347A-->C(Val42Val) single nucleotide polymorphism(SNP) by sequencing.


CONCLUSIONS
The 352 insA mutation is a new causative mutation and the 347A-->C is a rare single nucleotide polymorphism.
Fang
L
L
Department of Neurology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian,350005 P.R. China. nwang@163.net
Wu
Z
Z
Wang
N
N
Lin
M
M
Murong
S
S
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000473:pathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins
D011506:Proteins; C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins; D004247:DNA