[Identification of mutation of the X-linked juvenile retinoschisis gene].
OBJECTIVE
To elucidate the pathogeny of X-linked retinoschisis(XLRS) and evaluate its value in direct gene diagnosis.


METHODS
Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) assay was performed to examine exons of XLRS1 gene in six unrelated retinoschisis cases (3 families and 3 sporadic cases), and fragments with a mobility shift were sequenced to identify the mutation. The deletion mutations were further identified by Southern blotting analysis.


RESULTS
Three deletions that eliminate exon 1, exon 2, and exon 3 were found in 4 patients of one family. There was severe effect of the mutation in the coding region. Three kinds of mutations were found in exon 4: Glu72Lys, Glu72Gln, Gly70Ser.


CONCLUSIONS
XLRS is caused by mutation of the XLRS1 gene. The finding helps establish a fast and effective direct diagnosis.
Yu
P
P
Department of Cell Biology, Medical School, Zhejiang University, Hangzhou, Zhejiang 310031 P. R. China. yp102@yahoo.com
Li
J
J
Li
R
R
Zhang
W
W
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012167:Retinal Perforations / Q000235:genetics*; D014960:X Chromosome