将1型5q晶格状角膜营养不良的染色体位点在遗传上精细定位到2厘摩区间内。
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
作者信息
Gregory C Y, Evans K, Bhattacharya S S
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
出版信息
J Med Genet. 1995 Mar;32(3):224-6. doi: 10.1136/jmg.32.3.224.
Abstract
Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. A maximum two point lod score of 7.51 (theta = 0.03) was obtained with marker D5S393. Multipoint and haplotype data positioned the disease between loci D5S393 and D5S396 corresponding to a genetic distance of 2cM, thus refining linkage sufficiently to allow for physical mapping of this disorder.
摘要
I型格子状角膜营养不良（LCDI）是一种相对常见的角膜营养不良，可导致严重视力损害。最近的研究表明该疾病的基因定位于5号染色体q区。对一个六代LCDI家系进行的独立遗传连锁分析证实与由标记位点IL9和D5S436界定的5q区域连锁，提示遗传同质性。标记D5S393获得的最大两点连锁值为7.51（θ = 0.03）。多位点和单倍型数据将该疾病定位于位点D5S393和D5S396之间，对应的遗传距离为2厘摩，从而充分细化了连锁关系，以便对该疾病进行物理图谱绘制。
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