Uhrhammer N, Lange E, Porras O, Naeim A, Chen X, Sheikhavandi S, Chiplunkar S, Yang L, Dandekar S, Liang T
Department of Pathology, UCLA School of Medicine 90095-1732, USA.
Am J Hum Genet. 1995 Jul;57(1):103-11.
In an effort to localize a gene for ataxia-telangiectasia (A-T), we have genotyped 27 affected Costa Rican families, with 13 markers, in the chromosome 11q22-23 region. Significant linkage disequilibrium was detected for 9/13 markers between D11S1816 and D11S1391. Recombination events observed in these pedigrees places A-T between D11S1819 and D11S1960. One ancestral haplotype is common to 24/54 affected chromosomes and roughly two-thirds of the families. Inferred (ancestral) recombination events involving this common haplotype in earlier generations suggest that A-T is distal to D11S384 and proximal to D11S1960. Several other common haplotypes were identified, consistent with multiple mutations in a single gene. When considered together with all other evidence, this study further sublocalizes the major A-T locus to approximately 200 kb, between markers S384 and S535.
为了定位共济失调毛细血管扩张症（A-T）的基因，我们使用13个标记对27个患有该病的哥斯达黎加家族进行了11号染色体q22 - 23区域的基因分型。在D11S1816和D11S1391之间的13个标记中，检测到9个标记存在显著的连锁不平衡。在这些家系中观察到的重组事件将A-T基因定位在D11S1819和D11S1960之间。一种祖先单倍型在54条受影响染色体中的24条以及大约三分之二的家族中是常见的。在早期世代中涉及这种常见单倍型的推断（祖先）重组事件表明，A-T基因在D11S384的远端和D11S1960的近端。还鉴定出了其他几种常见单倍型，这与单个基因中的多个突变一致。综合所有其他证据来看，本研究进一步将主要的A-T基因座定位到标记S384和S535之间约200 kb的区域。
