The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.
复制标题
奈梅亨断裂综合征 (V2) 的基因并不位于 11 号染色体上。
DOI：
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发表时间：
1996
影响因子：
9.8
通讯作者：
M. Oshimura
中科院分区：
文献类型：
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作者：
K. Komatsu;S. Matsuura;H. Tauchi;S. Endo;S. Kodama;D. Smeets;C. Weemaes;M. Oshimura
共济失调性毛细血管扩张症（AT）是一种以眼皮肤毛细血管扩张和小脑共济失调为特征的常染色体隐性遗传疾病。患有这种疾病的个体表现出免疫功能障碍、对电离辐射过敏和易患癌症。已经报道了AT的遗传异质性，其似乎包括经典AT中的四个遗传互补组-即，A、B/C、D、E -和两种变体，即所谓的奈梅亨断裂综合征（NBS），V1和V2。在四组经典AT中，未观察到临床表现的显著差异。家族连锁分析表明，经典AT中所有四个互补组的基因都位于染色体11 q22 -23上的一个狭窄区域。另一方面，NBS患者既没有小脑共济失调也没有毛细血管扩张症，但确实显示小头畸形和发育迟缓。然而，患者与AT有共同的特征，如高放射敏感性、放射抗性DNA合成（RDS）和染色体不稳定性，表明两种综合征中相同的途径（或其部分）受损。NBS的潜在基因尚未确定，其在人类基因组中的位置仍然未知。参考文献15篇，3图。
Ataxia telanglectasia (AT) is an autosomal recessive disorder characterized by oculocutaneous telangiectasia and cerebellar ataxia. Individuals with this disorder display immunological impairments, hypersensitivity to ionizing radiation, and a predisposition to cancer. There has been reported genetic heterogeneity in AT, which appeared to include four genetic complementation groups in classical AT - i.e., A, B/C, D, E - and two variants, so-called Nijmegen breakage syndrome (NBS), V1 and V2. Among the four groups of classical AT, no significant differences in clinical appearance have been seen. Familial linkage analyses have produced evidence that genes for all four complementation groups in classical AT reside in a narrow region on chromosome 11q22-23. On the other hand, NBS patients have neither cerebellar ataxia nor telanglectasia but do display microcephaly and a developmental delay. However, patients share features with AT, such as high radiosensitivity, radioresistant DNA synthesis (RDS), and chromosome instability, suggesting that the same pathway (or part thereof) is impaired in both syndromes. The underlying gene for NBS has not yet been identified, and its location in the human genome is still unknown. 15 refs., 3 figs.