Lyons L A, Martha A, Mintz-Hittner H A, Saunders G F, Ferrell R E
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261.
Genomics. 1992 Aug;13(4):925-30. doi: 10.1016/0888-7543(92)90002-a.
Two distinct loci have been proposed for aniridia; AN1 for autosomal dominant aniridia on chromosome 2p and AN2 for the aniridia in the WAGR contiguous gene syndrome on chromosome 11p13. In this report, the kindred segregating for autosomal dominant aniridia, which suggested linkage to acid phosphatase-1 (ACP1) and led to the assignment of the AN1 locus on chromosome 2p, has been updated and expanded. Linkage analysis between the aniridia phenotype and ACP1 does not support the original linkage results, excluding linkage up to theta = 0.17 with Z = -2. Tests for linkage to other chromosome 2p markers. APOB, D2S71, D2S5, and D2S1, also excluded linkage to aniridia. Markers that have been isolated from the chromosome 11p13 region were then analyzed in this aniridia family. Two RFLPs at the D11S323 locus give significant evidence for linkage. The PvuII polymorphism detected by probe p5S1.6 detects no recombinants, with a maximum lod score of Z = 6.97 at theta = 0.00. The HaeIII polymorphism detected by the probe p5BE1.2 gives a maximum lod score of Z = 2.57 at theta = 0.00. Locus D11S325 gives a lod score of Z = 1.53 at theta = 0.00. These data suggest that a locus for aniridia (AN1) on chromosome 2p has been misassigned and that this autosomal dominant aniridia family is segregating for an aniridia mutation linked to markers in the 11p13 region.
关于无虹膜症，已提出两个不同的基因座；2号染色体短臂上的AN1与常染色体显性无虹膜症相关，而11号染色体短臂13区上的AN2与WAGR综合征相关的无虹膜症有关。在本报告中，对一个分离常染色体显性无虹膜症的家系进行了更新和扩展，该家系曾提示与酸性磷酸酶-1（ACP1）存在连锁关系，并导致将AN1基因座定位于2号染色体短臂。无虹膜症表型与ACP1之间的连锁分析不支持最初的连锁结果，排除了θ = 0.17时Z = -2的连锁关系。对2号染色体短臂上的其他标记进行连锁测试，包括载脂蛋白B（APOB）、D2S71、D2S5和D2S1，也排除了与无虹膜症的连锁关系。然后在这个无虹膜症家系中分析了从11号染色体短臂13区分离出的标记。D11S323基因座上的两个限制性片段长度多态性（RFLP）提供了显著的连锁证据。探针p5S1.6检测到的PvuII多态性未发现重组体，在θ = 0.00时最大对数优势分数Z = 6.97。探针p5BE1.2检测到的HaeIII多态性在θ = 0.00时最大对数优势分数Z = 2.57。基因座D11S325在θ = 0.00时对数优势分数Z = 1.53。这些数据表明，2号染色体短臂上的无虹膜症基因座（AN1）定位错误，这个常染色体显性无虹膜症家系所分离的无虹膜症突变与11号染色体短臂13区的标记相关。
