Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p.
Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disorder characterized clinically by grayish corneal deposits of amyloid and by severely impaired visual acuity. Most patients require corneal transplantation. To localize a gene responsible for GDLD, we performed linkage analysis of 10 consanguineous Japanese families with a total of 13 affected members. Homozygosity mapping provided a maximum LOD score of 9.80 at the D1S2741 marker locus on the short arm of chromosome 1. Haplotype analysis further defined the disease locus within a region of approximately 2.6 cM between D1S2890 and D1S2801.
Tsujikawa
M
M
Division of Clinical genetics. Department of Medical Genetics, Osaka University Medical School, Osaka, Japan.
Kurahashi
H
H
Tanaka
T
T
Okada
M
M
Yamamoto
S
S
Maeda
N
N
Watanabe
H
H
Inoue
Y
Y
Kiridoshi
A
A
Matsumoto
K
K
Ohashi
Y
Y
Kinoshita
S
S
Shimomura
Y
Y
Nakamura
Y
Y
Tano
Y
Y
D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007564:Japan; D008126:Lod Score; D008297:Male; D010375:Pedigree