一种新型导致α-甘露糖苷贮积症的突变的特征及其在骨髓移植后白细胞基因分型中的应用。

Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.

作者信息

Frostad Riise H M, Hansen G M, Tollersrud O K, Nilssen O

机构信息

Department of Medical Biochemistry, University of Tromsø, Norway.

出版信息

Hum Genet. 1999 Jan;104(1):106-7. doi: 10.1007/s004390050918.

DOI:10.1007/s004390050918

PMID:10071201

Abstract

Alpha-Mannosidosis is a lysosomal storage disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). Major symptoms include mental retardation, skeletal changes and recurrent infections. Recently, a successful bone marrow transplantation (BMT) in an alpha-mannosidosis patient was reported. Here we show that this patient was homozygous for a novel mutation, a 1-bp insertion (1197-1198insA) in exon 9 of the LAMAN gene. By using this mutation as a marker, we demonstrate that 1 year post-BMT, the LAMAN genotype of the patient's leukocytes was identical to that of the donor. This method of genotyping blood cells is a fast and accurate way to monitor the colonization of donor bone marrow cells.

摘要

α-甘露糖苷贮积症是一种由溶酶体α-甘露糖苷酶（LAMAN）缺乏引起的溶酶体贮积病。主要症状包括智力迟钝、骨骼改变和反复感染。最近，有报道称一名α-甘露糖苷贮积症患者成功进行了骨髓移植（BMT）。在此我们表明，该患者对于一个新的突变是纯合的，该突变是LAMAN基因第9外显子中的一个1bp插入（1197 - 1198insA）。通过将此突变用作标记，我们证明在BMT后1年，患者白细胞的LAMAN基因型与供体的相同。这种血细胞基因分型方法是监测供体骨髓细胞定植的一种快速且准确的方式。