McConville C M, Woods C G, Farrall M, Metcalfe J A, Taylor A M
Department of Cancer Studies, University of Birmingham, UK.
Hum Genet. 1990 Jul;85(2):215-20. doi: 10.1007/BF00193199.
Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterised by progressive neurological degeneration, oculocutaneous telangiectasia, immunodeficiency and a high incidence of lymphoid tumours. A prerequisite to gaining a complete understanding of the basic defect that results in these features is the localization of the gene(s) involved. We report here a linkage analysis using seven polymorphic markers, which map to 11q22-23, on a sample of 35 consecutively obtained families from the British Isles showing this disorder. In a pairwise analysis, the strongest support for linkage was a lod score of 4.01 at zero recombination from Thy-1. This result supports a previous report showing linkage of the A-T gene to 11q22-23. We have also obtained evidence in a multipoint analysis for a more centromeric A-T-linked locus in the region between YNB 3.12/CJ52.208 and 2-7-1D6. This observation is also supported by inspection of the haplotypes of selected recombinants.
共济失调毛细血管扩张症（A-T）是一种常染色体隐性疾病，其特征为进行性神经退行性变、眼皮肤毛细血管扩张、免疫缺陷以及淋巴瘤高发。要全面了解导致这些特征的基本缺陷，前提是定位相关基因。我们在此报告一项连锁分析，使用了7个多态性标记，这些标记定位于11q22 - 23，分析对象是从英伦诸岛连续选取的35个患有该疾病的家庭样本。在成对分析中，支持连锁的最强证据是Thy - 1在零重组时的对数优势分数为4.01。这一结果支持了之前关于A-T基因与11q22 - 23连锁的报告。我们还在多点分析中获得证据，表明在YNB 3.12/CJ52.208和2 - 7 - 1D6之间的区域存在一个更靠近着丝粒的与A-T连锁的位点。对选定重组体单倍型的检查也支持了这一观察结果。
