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[Identification of mutation of the X-linked juvenile retinoschisis gene]
1Department of Cell Biology, Medical School, Zhejiang University, Hangzhou, Zhejiang 310031 P. R. China. yp102@yahoo.com
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.
Conclusion:
XLRS is caused by mutation of the XLRS1 gene. The finding helps establish a fast and effective direct diagnosis.