人类酯酶D和视网膜母细胞瘤基因在13号染色体14区带的区域定位。

Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

作者信息

Sparkes R S, Sparkes M C, Wilson M G, Towner J W, Benedict W, Murphree A L, Yunis J J

出版信息

Science. 1980 May 30;208(4447):1042-4. doi: 10.1126/science.7375916.

Abstract

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.

摘要

对5名13号染色体部分缺失或重复的患者的人酯酶D表达进行了定量和定性评估。结果表明，该酶的基因座位于13q14带。先前已发现其他受试者中该带的缺失表明易患视网膜母细胞瘤，本研究中4名13号染色体部分缺失的个体中存在这种情况。由于这种紧密的同线性，酯酶D评估应有助于视网膜母细胞瘤的诊断和遗传咨询。