移码突变
遗传性球形红细胞增多症
锚定
遗传学
先证者
突变
生物
等位基因
基因
作者
Patrick G. Gallagher,Jovino dos Santos Ferreira,Fernando Ferreira Costa,Sara T.O. Saad,Bernard G. Forget
标识
DOI:10.1046/j.1365-2141.2000.02441.x
摘要
During a survey of typical, dominant hereditary spherocytosis (HS) patients, we identified a frameshift mutation of the ankyrin gene in three unrelated probands. All three probands, who were from different ethnic backgrounds, suffered from severe HS requiring splenectomy. Analysis of both intragenic and flanking polymorphisms revealed that these probands did not share a common ankyrin allele, providing evidence that these mutations arose independently on separate chromosomal backgrounds. This frameshift mutation associated with severe HS, Ankyrin Florianópolis, is the first description of a recurrent mutation in the ankyrin gene.
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