Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31
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DOI：
10.1007/s004390050036
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发表时间：
2000-06-01
期刊：
影响因子：
5.3
通讯作者：
Gutowski, NH
中科院分区：
文献类型：
--
作者：
Evans, JC;Frayling, TM;Gutowski, NH
杜安氏综合征是一种先天性眼球运动异常，可能作为常染色体显性遗传，但通常零星发生。最近在一个墨西哥家庭的遗传作图中确定了染色体2q31的17.8 cM区域内的Duane综合征的基因座。该区域两侧是微卫星标记D2S2330和D2S364。我们在一个四代常染色体显性遗传杜安综合征的英国家族中进行了连锁和单倍型分析。与2q31的连锁被确认为在θ =0处的最大差异对数（lod）得分为3.3。遗传间隔减少到8.8 cM的区域之间的标记D2S326和D2S364，包括候选同源框D基因簇。
Duane's syndrome is a congenital abnormality of eye movement, which may be inherited as an autosomal dominant trait but usually occurs sporadically. Genetic mapping in a Mexican family has recently identified a locus for Duane's syndrome within a 17.8-cM region of chromosome 2q31. The region was flanked by the microsatellite markers D2S2330 and D2S364. We performed linkage and haplotype analysis in a four-generation UK family with autosomal dominant transmission of Duane's syndrome. Linkage to 2q31 was confirmed with a maximum logarithm of differences (lod) score of 3.3 at theta=0. The genetic interval was reduced to an 8.8-cM region between markers D2S326 and D2S364 that includes the candidate homeobox D gene cluster.