Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.
Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.
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DOI：
10.1126/science.7375916
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发表时间：
1980-05
期刊：
影响因子：
56.9
通讯作者：
R. Sparkes;MC Sparkes;M. Wilson;JW Towner;W. Benedict;A. Murphree;J. Yunis
中科院分区：
文献类型：
--
作者：
R. Sparkes;MC Sparkes;M. Wilson;JW Towner;W. Benedict;A. Murphree;J. Yunis
人酯酶D的表达进行了定量和定性评价5人部分缺失或重复的13号染色体。结果表明，该酶的基因位点位于13q14带。先前已经发现在其他受试者中缺失相同的条带表明易患视网膜母细胞瘤，这存在于本研究中13号染色体部分缺失的4个个体中。由于这种密切的同线性，酯酶D的评价应有助于视网膜母细胞瘤的诊断和遗传咨询。
The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.