Wang Y, Treat K, Schroer R J, O'Brien J E, Stevenson R E, Schwartz C E
Greenwood Genetic Center, SC 29646.
Am J Med Genet. 1994 Jun 1;51(2):169-75. doi: 10.1002/ajmg.1320510221.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition of branchial arch anomalies, deafness and renal dysplasia. Clinical manifestations tend to have considerable intrafamilial and interfamilial variability. Previous linkage studies had localized the gene responsible for BOR syndrome to a broad region of chromosome 8q. Using 10 microsatellite markers, we have further refined the localization of this disorder by establishing tight linkage to two markers, D8S279 and D8S530 (Zmax = 3.91 and Zmax = 2.83 respectively at theta = 0.00). These markers are within 1 cM of one another. Multipoint analysis, involving 7 loci, placed the gene between these markers, with a lod-1 confidence interval 0.7 cM proximal to D8S530 and 0.6 cM distal to D8S279.
鳃耳肾（BOR）综合征是一种常染色体显性疾病，表现为鳃弓异常、耳聋和肾发育不全。其临床表现往往在家族内部和家族之间存在很大差异。先前的连锁研究已将导致BOR综合征的基因定位到8号染色体长臂的一个广泛区域。我们使用10个微卫星标记，通过与两个标记D8S279和D8S530建立紧密连锁（在θ = 0.00时，Zmax分别为3.91和2.83），进一步精确了该疾病的定位。这些标记彼此之间的距离在1厘摩以内。涉及7个位点的多点分析将该基因定位在这些标记之间，其lod - 1置信区间在D8S530近端0.7厘摩和D8S279远端0.6厘摩处。
