Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach
Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach
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DOI：
10.1038/jhg.2011.37
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发表时间：
2011-06-01
影响因子：
3.5
通讯作者：
Kim, Hyon J.
中科院分区：
文献类型：
--
作者：
Jeong, Seon-Yong;Kim, Seo-Jin;Kim, Hyon J.
戈谢病（GD）是一种常染色体隐性、溶酶体疾病，由β-葡糖脑苷脂酶（GBA）基因突变引起。非功能性GBAP假基因与功能性GBA基因具有高度序列相似性，其存在使得难以进行GD的分子分析，尤其是重组突变。使用远程PCR的方法，已巧妙地设计为易于检测GBA重组突变，我们确定了四个重组突变，包括两个基因转换等位基因，Rec 1a和Rec 8a，一个互惠基因融合等位基因，Rec 1b，和一个互惠基因重复等位基因，Rec 7 b，在韩国GD患者。Rec 8a是一种新的重组突变，其中GBA基因被从内含子5到外显子11的GBAP假基因序列取代。通过PCR扩增子的全测序和/或Southern印迹分析确认所有突变。这些结果表明，使用远程PCR可以快速，准确地检测GBA重组突变，并有助于提高GD患者的基因分型效率。Journal of Human Genetics（2011）56，469-471; doi：10.1038/jhg.2011.37; 2011年4月14日在线发表
Gaucher disease (GD) is an autosomal recessive, lysosomal disorder caused by mutations in the gene for the beta-glucocerebrosidase (GBA) enzyme. Presence of the non-functional GBAP pseudogene, which shares high sequence similarity with the functional GBA gene, has made it difficult to carry out molecular analyses of GD, especially recombinant mutations. Using a long-range PCR approach that has been skillfully devised for the easy detection of GBA recombinant mutations, we identified four recombinant mutations including two gene conversion alleles, Rec 1a and Rec 8a, one reciprocal gene fusion allele, Rec 1b, and one reciprocal gene duplication allele, Rec 7b, in Korean patients with GD. Rec 8a, in which the GBAP pseudogene sequence from intron 5 to exon 11 is substituted for the GBA gene is a novel recombinant mutation. All mutations were confirmed by full sequencing of PCR amplicons and/or Southern blot analysis. These results indicate that the usage of long-range PCR may allow the rapid and accurate detection of GBA recombinant mutations and contribute to the improvement of genotyping efficiency in GD patients. Journal of Human Genetics (2011) 56, 469-471; doi:10.1038/jhg.2011.37; published online 14 April 2011