PubMed · 14875792
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L THOMPSON. 1951. Perception patterns in three Indian tribes.. https://doi.org/10.1080/00332747.1951.11022827
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Glaucoma is the leading cause of irreversible blindness worldwide. East Asians account for approximately half of all glaucoma sufferers. It is likely that trabeculectomy will be needed for many of these people as the intraocular pressure is to be maintained at a satisfactorily low level. The eyes of East Asian people differ in some aspects from those of other races. This review describes the natural history of the eye after trabeculectomy in East Asians.
The mitochondrial DNA HV3 region contains CA dinucleotide repeats which display length polymorphism. To analyze this for forensic purposes, we designed a fluorescence-labelled PCR primer set for short amplification products and carried out genotyping by using capillary electrophoresis. A total of 4 alleles with 4-7 repeat units were observed and the genetic diversity was estimated to be 0.5120 in 500 unrelated Koreans. Interestingly, three individuals showed two or three length variants, i.e. length heteroplasmy.
Gilbert syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The mutation, A(TA)7TAA, is thought to be the sole cause of the syndrome in Caucasians, but an enhancer polymorphism (T-3279G) that lowers transcriptional activity has recently been reported. We have tested the linkage of the two mutations in 11 Caucasians and 12 Japanese patients who were homozygous for A(TA)7TAA. All 23 patients were also homozygous for T-3279G, indicating that T-3279G and A(TA)7TAA were linked. The decrease in transcription caused by both mutations together may be essential to the syndrome.