Dominant optic atrophy, Kjer type - Linkage analysis and clinical features in a large British pedigree
Dominant optic atrophy, Kjer type - Linkage analysis and clinical features in a large British pedigree
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DOI：
10.1001/archopht.1997.01100150102017
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发表时间：
1997-01-01
影响因子：
--
通讯作者：
Seller, MJ
中科院分区：
文献类型：
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作者：
Johnston, RL;Burdon, MA;Seller, MJ
目的：对一个广泛的5代显性视神经萎缩英国家系进行DNA连锁研究，并验证对患病成员进行辅助检查的有效性。方法：对家系成员进行基于矫正视力、色觉、视野缺损和视盘外观的辅助检查;使用3q 27-qter上的7个微卫星标记进行DNA连锁分析。根据眼科检查的结果，15名成员可被归类为肯定受影响，1名可能受影响，25名未受影响。两点连锁分析在u = 0.00时得到显著的最大lod分数，标记为D3 S3669、D3 S3590和D3 S3642。在受影响的个体（包括可能受影响的受试者）中确定了与疾病分离的单倍型。信息性减数分裂定义了标记物D3 S1601和D3 S1265之间的疾病间隔。结论：家庭筛查可有效识别一个英国显性视神经萎缩家系的所有16名受累成员。具有典型的临床特征。在这个新的英国家庭的OPA 1基因的位置似乎是在3q 27 -28区域，是相同的，在丹麦，古巴和法国的家庭报告，这表明在这种疾病没有遗传异质性。
Objectives: To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members.Methods: Family members received a domiciliary examination based on corrected visual acuity, color vision, visual field defects, and optic disc appearance; DNA linkage analysis was performed using 7 microsatellite markers on 3q27-qter.Results: Based on the results of the ophthalmic examination, 15 members could be classified as definitely affected, 1 probably affected, and 25 unaffected. Two-point linkage analysis gave significant maximum lod scores at u = 0.00, with the markers D3S3669, D3S3590, and D3S3642. A haplotype segregating with the disease was identified in affected individuals, including the probably affected subject. Informative meioses defined the disease interval between markers D3S1601 and D3S1265.Conclusions: Domiciliary screening was effective in identifying all 16 affected members of a British family with dominant optic atrophy. The typical clinical features were present. The location of the OPA1 gene in this new British family seems to be in the 3q27-28 region and is the same as that reported in Danish, Cuban, and French families, suggesting no genetic heterogeneity in this disorder.