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一名患有异位颅内视网膜母细胞瘤儿童的RB1基因突变

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.

作者信息

Onadim Z, Woolford A J, Kingston J E, Hungerford J L

机构信息

Academic Department of Paediatric Oncology, St Bartholomew's Hospital Medical College, London, UK.

出版信息

Br J Cancer. 1997;76(11):1405-9. doi: 10.1038/bjc.1997.570.

DOI:10.1038/bjc.1997.570
PMID:9400934
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2228178/
Abstract

The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient. A nonsense mutation in exon 17 (codon 556) of the RB1 gene was found to be present homozygously in both the retinal and the pineal tumours. The same mutation was present heterozygously in the DNA from the constitutional cells of the patient, proving it to be of germline origin. The initial mutation was shown to have occurred in the paternally derived RB1 allele. The mutation is in an area of the gene that encodes the protein-binding region known as the 'pocket' region and has been detected in other cases of retinoblastoma.

摘要

利用从一名患有异位颅内视网膜母细胞瘤患儿的松果体瘤和视网膜肿瘤中获取的DNA，对RB1基因突变进行了研究。发现RB1基因第17外显子（密码子556）中的一个无义突变在视网膜肿瘤和松果体瘤中均为纯合存在。在该患者的体细胞DNA中，相同的突变以杂合形式存在，证明其起源于种系。最初的突变显示发生在父源的RB1等位基因中。该突变位于基因中编码被称为“口袋”区域的蛋白质结合区，并且在其他视网膜母细胞瘤病例中也有检测到。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/8c17ab8a57b1/brjcancer00175-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/4e6102898560/brjcancer00175-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/a33fa8e58a02/brjcancer00175-0016-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/8c17ab8a57b1/brjcancer00175-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/4e6102898560/brjcancer00175-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/a33fa8e58a02/brjcancer00175-0016-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f7/2228178/8c17ab8a57b1/brjcancer00175-0017-a.jpg

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A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene.在一个患有轻度视网膜母细胞瘤的家族中，启动子区域的一种新型突变表明了RB1基因新调控域的位置。
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