[Report of gene mutation hot spots analysis in one congenital cataract pedigree].
OBJECTIVE
To analyse autosomal dominant gene mutation hot spots in a four-generation Chinese congenital cataract pedigree.


METHODS
Nineteen family members of the pedigree (including eight affected and eleven unaffected individuals) were enrolled into the study with informed consent. The eight affected individuals underwent a full ophthalmologic and general examination to rude out any concomitant disorders. The eleven unaffected individuals only underwent ophthalmologic examination. Blood samples were taken from the nineteen subjects for genomic DNA preparation. Seventeen distinct loci on ten different genes (including CRYAA, CRYAB, CRYBA1/A3, CRYGD, GJA8, CRYGC, CRYBB2, GJA3, MIP and BFSP2) have been identified as causes of autosomal dominant congenital cataract (ADCC). Polymerase chain reaction (PCR) amplification of ten gene segments encompassing seventeen mutation hot spots were carried out in the nineteen subjects of the pedigree. Sequences and analysis of PCR products were then performed to detect corresponding mutations.


RESULTS
No mutation was found on the seventeen autosomal dominant mutation hot spots in all nineteen subjects.


CONCLUSIONS
Preliminarily exclude the association of the seventeen published autosomal dominant mutation hot spots with ADCC in this family.
Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Xinyu
X
Zhang
Yizhi
Y
Liu
Lixia
L
Luo
Mingxing
M
Wu
Gang
G
Cheng
Bin
B
Hu
D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D003459:Crystallins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics; D038203:alpha-Crystallin B Chain; D038205:beta-Crystallin A Chain
C059215:CRYAB protein, human; C489108:CRYBA1 protein, human; D003459:Crystallins; D007381:Intermediate Filament Proteins; D009419:Nerve Tissue Proteins; D038203:alpha-Crystallin B Chain; D038205:beta-Crystallin A Chain; D011494:Protein Kinases