Portal de Periódicos da CAPES

Homozygosity Mapping of a Gene Responsible for Gelatinous Drop–like Corneal Dystrophy to Chromosome 1p

1998; Elsevier BV; Volume: 63; Issue: 4 Linguagem: Inglês

10.1086/302071

1537-6605

Motokazu Tsujikawa, Hiroki Kurahashi, Toshihiro Tanaka, Masaki Okada, Syuji Yamamoto, Naoyuki Maeda, Hitoshi Watanabe, Yoshitsugu Inoue, Akira Kiridoshi, Kouki Matsumoto, Yuichi Ohashi, Shigeru Kinoshita, Yoshikazu Shimomura, Yusuke Nakamura, Yasuo Tano,

Glaucoma and retinal disorders

SummaryGelatinous 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 ∼2.6 cM between D1S2890 and D1S2801. 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 ∼2.6 cM between D1S2890 and D1S2801.