[Study of novel mutation of OPTN gene in two primary open angle glaucoma families in northeast China].
OBJECTIVE
To identify the mutation gene of two Chinese families with primary open angle glaucoma.


METHODS
It was a case control study. Clinical observation and pedigree analysis were undertaken in two families with primary open angle glaucoma. Venous blood were drawn from 6 affected and 6 unaffected subjects in family L, and from 4 affected and 4 unaffected subjects in family C. Genomic DNA was extracted. Linkage to OPTN gene locus was determined. Mutation of this gene was screened by PCR of OPTN gene exons and direct sequencing.


RESULTS
A missense mutation A1274G in exon 10 of OPTN gene was identified in affected members of family L. The corresponding amino acid change was Lys322Glu. This mutation was not found in unaffected family members of family L, all members of family C and 87 unrelated normal controls.


CONCLUSIONS
A novel mutation of OPTN gene with Lys322Glu change is responsible for the occurrence of primary open angle glaucoma in a Chinese family.
Yuan
Hui-Ping
HP
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China. yuanhp@yahoo.com
Xiao
Zheng
Z
Xu
Na
N
Yang
Bin-Bin
BB
Meng
Qing-Feng
QF
Li
Yuan-Yuan
YY
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D002681:China / Q000453:epidemiology; D005260:Female; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D035582:Transcription Factor TFIIIA / Q000235:genetics*
D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA