Villegas A, Sánchez J, Carreño D L, Ropero P, González F A, Espinós D, Peñalver M A, Lozano M
Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.
Am J Hematol. 1995 Aug;49(4):294-8. doi: 10.1002/ajh.2830490407.
A Spanish family with alpha-thalassemia-1 (alpha-Thal-1), deletion (--MA), is described. In addition to the loss of 22 kb of DNA with a deletion of the alpha 1, alpha 2, psi alpha 2, and psi zeta 1 genes, a triplication of the zeta gene cluster in "cis" is produced. The structure of this triplication is formed by the psi zeta 1 gene, the interzeta region, and, possibly, the insertion of the psi alpha 2 fragment.
描述了一个患有α地中海贫血1型（α-Thal-1）、缺失型（--MA）的西班牙家庭。除了缺失22 kb的DNA以及α1、α2、ψα2和ψζ1基因缺失外，还产生了“顺式”ζ基因簇的三倍体。该三倍体的结构由ψζ1基因、ζ基因间区域以及可能插入的ψα2片段组成。
