儿童家族性暂时性红细胞生成减少症与19号染色体q13.2区域相关，但并非由核糖体蛋白S19（RPS19）基因编码序列的突变所致。

Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.

作者信息

Gustavsson Peter, Klar Joakim, Matsson Hans, Forestier Erik, Henter Jan-Inge, Rao Sreedhar, Seip Martin, Skeppner Gunnar, Dahl Niklas

机构信息

Section of Clinical Genetics, Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, Uppsala, Sweden.

出版信息

Br J Haematol. 2002 Oct;119(1):261-4. doi: 10.1046/j.1365-2141.2002.03776.x.

DOI:10.1046/j.1365-2141.2002.03776.x

PMID:12358933

Abstract

Transient erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.

摘要

儿童暂时性红细胞生成减少症（TEC）是一种罕见疾病，发病时可能难以与先天性纯红细胞再生障碍性贫血（DBA）相区分。我们之前已经表明，核糖体蛋白S19基因（RPS19）的突变会导致DBA。为了阐明TEC和DBA是否为等位基因，我们研究了位于19号染色体q13.2上跨越RPS19基因区域的标记的分离情况，并对7对TEC同胞对的RPS19基因所有外显子进行了序列分析。连锁分析支持TEC和DBA在RPS19基因位点的等位性，并暗示了RPS19基因中除结构突变之外的分子机制。