Fortina P, Delgrosso K, Rappaport E, Poncz M, Ballas S K, Schwartz E, Surrey S
Division of Hematology, Children's Hospital, Philadelphia, PA.
Nucleic Acids Res. 1988 Dec 9;16(23):11223-35. doi: 10.1093/nar/16.23.11223.
We describe a new deletional form of alpha thalassemia segregating in three generations of a family of northern European origin. A full-term female girl had hypochromic, microcytic anemia since early infancy associated with delayed language development, slow growth and weight gain. Hematologic studies suggested the presence of alpha thalassemia. Gene-blotting studies showed no abnormal alpha-like globin gene fragments; however, studies of inheritance of informative polymorphic restriction fragments using zeta, alpha and 3'-alpha-hypervariable region (3'-HVR) probes showed evidence for an extensive deletion encompassing the entire alpha-like globin gene cluster. The 3' breakpoint of this deletion maps beyond the 3'-HVR, a region implicated as a hot spot for the generation of other large deletional events within the alpha-like cluster. The 5' breakpoint maps at least 10 kilobases (kb) 5' to the zeta-globin gene. The minimum size estimate for this deletion is greater than 47 kilobases.
我们描述了一种新的缺失型α地中海贫血，它在一个北欧血统的家族中已延续三代。一名足月女婴自婴儿早期就患有低色素性小细胞贫血，伴有语言发育迟缓、生长缓慢和体重增加。血液学研究提示存在α地中海贫血。基因印迹研究未显示异常的α样珠蛋白基因片段；然而，使用ζ、α和3'-α高变区（3'-HVR）探针进行的信息性多态性限制性片段遗传研究显示，有证据表明存在一个广泛的缺失，该缺失涵盖了整个α样珠蛋白基因簇。此缺失的3'断点位于3'-HVR之外，该区域被认为是α样基因簇内其他大的缺失事件发生的热点区域。5'断点位于ζ珠蛋白基因5'端至少10千碱基（kb）处。该缺失的最小估计大小大于47千碱基。
