| Co-Investigator(Kenkyū-buntansha) |
UEYAMA Hisao Shiga University of Medical Science, Department of Medical Biochemistry, Associate Professor, 医学部, 助教授 (30127013)
ODA Sanae Shiga University of Medical Science, Department of Ophthalmology, Research Associate, 医学部, 助手 (90335175)
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| Research Abstract |
1.We analyzed 230 color-normal Japanese males and revealed that the frequencies of polymorphisms at codons 180,296 in the L pigment gene and at codon 283 in the M pigment gene were different from those of Caucasian males.
2.The substitution (-71A>C) in the promoter region, that we had newly found, was revealed to diminish the transcriptional activity of the promoter and to be possible cause of congenital color vision defects.
3.The frequencies of -71C in Japanese, Chinese and Thai males were 24.3% (56/230), 19.4% (19/98) and 7.7% (8/104) respectively. But the substitution was rare in Caucasians (2%, 1/50) and in African Americans (0%, 0/14).
4.The most upstream genes, downstream genes and the most downstream genes were amplified separately by PCR. Carrier status could be detected by analyzing these PCR products. Eleven of 117 color normal females were diagnosed as genetic carriers.
5.We analyzed 514 cases of color vision deficiencies including 463 male cases. These were 69 protanopes(P), 6
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2 protanomals(PA), 152 deuteranopes(D), 167 deuteranomals(DA) and 13 pigment color defects(PCD).
6.Genotypes of 69 P were 53 P-types, 11 PA-types,3 N (normal) types and 2 undetermined. Genotypes of 62 PA were 4 P-types, 50 PA-types, 4 N-types, 2 undetermined and 2 inverted N (M-L genes) types. Of 152 D, 128 were D-types, 4 were DA-types, 7 were N-types and 13 were undtermined. Of 167 DA, 106 were DA-types, 14 D-types, 26 N-types and 21 were undetermined. All of 13 PCD had N type genes and -71C substitutioa Of 88 phenotype-genotype inconsistent cases 53 cases had -71C substitution, missense mutations such as Asn94Lys,Gly338Glu,Cys203Arg,Pro231Leu,2 bp-deletion in exon 5 or 11 bp-deletion in exon 3. These were understandable cases.
7.Seventeen inconsistent cases remained not understandable. There were 18 anomalous trichromats (should have 2 types of L or M cones), whose genotype were found to be dichromat (having only one type of L or M gene). Further investigation for these cases is required to clarify the phenotype-genotype relationships of congenital red-green color vision deficiencies. Less
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