Randon J, Miraglia del Giudice E, Bozon M, Perrotta S, De Vivo M, Iolascon A, Delaunay J, Morle L
CNRS URA 1171, Genetique Moleculaire Humaine, Institut Pasteur de Lyon, France.
Br J Haematol. 1997 Mar;96(3):500-6. doi: 10.1046/j.1365-2141.1997.d01-2074.x.
A subset of spherocytosis cases associated with mutations of the ANK1 gene present an apparently recessive inheritance pattern on a clinical and haematological basis. We identified three novel out-of-frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA) in three Italian patients, two of whom have been splenectomized. Analysis of the cDNA showed small or trace amounts of ankyrin mRNAs in Bari, Napoli II and Anzio. The parents were normal clinically and haematologically and did not carry the mutations exhibited by their children. We confirmed the de novo character of the HS mutations based on paternity testing. Recessive HS associated with the ANK1 gene is probably rarer than initially thought, and spherocytosis may often be due to de novo mutations.
一部分与ANK1基因突变相关的球形红细胞增多症病例在临床和血液学基础上呈现出明显的隐性遗传模式。我们在三名意大利患者中鉴定出ANK1基因的三个新的移码缺失：等位基因Bari（1361delG）、Napoli II（2883delC）和Anzio（3032delCA），其中两名患者已接受脾切除术。对cDNA的分析显示，Bari、Napoli II和Anzio中存在少量或微量的锚蛋白mRNA。父母在临床和血液学上均正常，且未携带其子女所表现出的突变。基于亲子鉴定，我们证实了这些遗传性球形红细胞增多症（HS）突变的新发特性。与ANK1基因相关的隐性HS可能比最初认为的更为罕见，球形红细胞增多症可能常常是由于新发突变所致。
