视网膜母细胞瘤的基因研究。

A genetic study of retinoblastoma.

作者信息

Liu X X, Sun Y J, Zhang L

机构信息

Department of Medical Genetics, Tongji Medical University, Wuhan.

出版信息

J Tongji Med Univ. 1991;11(4):220-4. doi: 10.1007/BF02888155.

DOI:10.1007/BF02888155

PMID:1819032

Abstract

Eight patients with retinoblastoma (RB) were studied by high resolution chromosome R-banding technique, and the esterase D was quantitatively determined in red blood cells of the patients. Among these patients, 2 showed 13q14 deletion mosaicism, 1 showed a monosomy 13q14.1-q14.2, and the remaining 5 had normal karyotype. Our findings indicated that 1) the RB gene is located at 13q14.1. The result confirmed previous data; 2) 13q deletion is an important event in the development of RB; and 3) esterase D determination is an important diagnostic tool in the detection of 13q deletion, useful for prenatal diagnosis and genetic counselling.

摘要

应用高分辨染色体R显带技术对8例视网膜母细胞瘤（RB）患者进行了研究，并对患者红细胞中的酯酶D进行了定量测定。这些患者中，2例显示13q14缺失嵌合体，1例显示13q14.1-q14.2单体，其余5例核型正常。我们的研究结果表明：1）RB基因位于13q14.1，该结果证实了先前的数据；2）13q缺失是RB发生发展中的一个重要事件；3）酯酶D测定是检测13q缺失的一项重要诊断工具，对产前诊断和遗传咨询有用。