ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.
ABCA4 gene sequence alterations cause Stargardt's disease (STGD) and may cause some age-related macular degeneration (AMD). We sought to shed light on these associations among Hong Kong Chinese by genotyping 140 AMD, 18 STGD and 95 normal control subjects for 15 ABCA4 exons which were reported to often contain AMD- or STGD-associated mutations. Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6-5T>G and IVS33+1G>T were found in AMD patients. T1428M and R2040X occurred in STGD patients. Control subjects displayed all the above missense alterations but no splicing or nonsense changes. Therefore, ABCA4 splicing mutations may be associated with a small proportion of AMD cases.
Baum
Larry
L
Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
Chan
Wai Man
WM
Li
Wai Ying
WY
Lam
Dennis S C
DS
Wang
Peng Bo
PB
Pang
Chi Pui
CP
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics*; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters