一个家系未显示共济失调毛细血管扩张症基因与11号染色体q22 - 23之间存在连锁的证据。
A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.
作者信息
Hernandez D, McConville C M, Stacey M, Woods C G, Brown M M, Shutt P, Rysiecki G, Taylor A M
机构信息
Department of Cancer Studies, University of Birmingham.
出版信息
J Med Genet. 1993 Feb;30(2):135-40. doi: 10.1136/jmg.30.2.135.
Abstract
We have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). Both patients are still ambulatory at ages 25 and 20. Cellular features of both patients are typical of AT and include increased radiosensitivity and an increased level of spontaneously occurring chromosome aberrations in peripheral blood lymphocytes. Linkage studies and haplotype analysis show no clear evidence that the gene for AT in this family is on chromosome 11q22-23. As previously reported AT families from complementation groups AB, C, and D have all shown linkage to this region of 11q22-23. Our study is of importance in suggesting additional locus heterogeneity.
摘要
我们研究了一个近亲结婚的家族，其中两名表亲表现出相同的共济失调毛细血管扩张症（AT）临床特征。两名患者在25岁和20岁时仍能行走。两名患者的细胞特征均为典型的AT，包括辐射敏感性增加以及外周血淋巴细胞中自发染色体畸变水平升高。连锁研究和单倍型分析未发现明确证据表明该家族中AT基因位于11号染色体q22 - 23区域。如先前报道，来自互补组AB、C和D的AT家族均显示与11q22 - 23这一区域存在连锁关系。我们的研究对于提示额外的基因座异质性具有重要意义。
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