LOCALIZATION OF THE GENE FOR CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-III, CDAN3, TO CHROMOSOME 15Q21 - Q25

被引:51
|
作者
LIND, L
SANDSTROM, H
WAHLIN, A
ERIKSSON, M
NILSSONSOJKA, B
SIKSTROM, C
HOLMGREN, G
机构
[1] UMEA UNIV HOSP,DEPT FAMILY MED,S-90185 UMEA,SWEDEN
[2] UMEA UNIV HOSP,DEPT INTERNAL MED,S-90185 UMEA,SWEDEN
[3] UMEA UNIV HOSP,DEPT ONCOL,S-90185 UMEA,SWEDEN
[4] UMEA UNIV HOSP,DEPT TRANSFUS MED,S-90185 UMEA,SWEDEN
[5] UMEA UNIV,DEPT MED GENET,S-90185 UMEA,SWEDEN
关键词
D O I
10.1093/hmg/4.1.109
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Congenital dyserythropoietic anemia, type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multinucleate erythroblasts. We have genetically characterized a large Swedish family in which the concurrence of CDA III and myeloma or benign monoclonal gammopathy is significantly higher than expected and have found that the causative genetic defect for CDA III maps to an 11 cM interval within 15q21-q25.
引用
收藏
页码:109 / 112
页数:4
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