常染色体显性无虹膜症：可能与2号染色体上的酸性磷酸酶-1位点连锁。
Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.
作者信息
Ferrell R E, Chakravarti A, Hittner H M, Riccardi V M
出版信息
Proc Natl Acad Sci U S A. 1980 Mar;77(3):1580-2. doi: 10.1073/pnas.77.3.1580.
Abstract
Maximum likelihood analysis for linkage between autosomal dominant aniridia and 12 biochemical and serological markers in a single large family showed a probable linkage between autosomal dominant aniridia and the enzyme acid phosphatase-1. The presence of an autosomal dominant aniridia gene linked to acid phosphatase-1 on chromosome arm 2p and the existence of an aniridia syndrome resulting from deletion of band 13 of the short arm of chromosome 11 establishes a chromosome basis for genetic heterogeneity of aniridia phenotypes.
摘要
对一个大家庭中常染色体显性无虹膜症与12种生化和血清学标记之间的连锁关系进行的最大似然分析表明，常染色体显性无虹膜症与酸性磷酸酶-1酶之间可能存在连锁关系。与2号染色体短臂上的酸性磷酸酶-1连锁的常染色体显性无虹膜症基因的存在，以及由11号染色体短臂13带缺失导致的无虹膜综合征的存在，为无虹膜症表型的遗传异质性奠定了染色体基础。
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Proc Natl Acad Sci U S A. 1980 Mar;77(3):1580-2. doi: 10.1073/pnas.77.3.1580.
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