台湾多发性遗传性骨软骨瘤患者的突变
Mutant in Taiwanese Patients with Multiple Hereditary Exostoses.
作者信息
Lin Wei-De, Hwu Wuh-Liang, Wang Chung-Hsing, Tsai Fuu-Jen
机构信息
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan.
出版信息
Biomedicine (Taipei). 2014;4(2):11. doi: 10.7603/s40681-014-0011-4. Epub 2014 Aug 1.
BACKGROUND
Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes and .
METHODS
Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of and , including intron/exon boundaries, sequenced via DNA samples drawn from participants.
RESULTS
DNA sequencing revealed mutant gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group.
CONCLUSIONS
Our results extended the spectrum of mutations, revealing similar incidence of and in Taiwanese MHE patients.
背景
多发性遗传性骨软骨瘤（MHE）的特征是有多个由软骨覆盖的骨良性突起，在长骨的干骺端最为常见。遗传性多发性骨软骨瘤（HME）通常以常染色体显性模式遗传，主要相关基因有 和 。
方法
从临床中识别出两名MHE患者并纳入基因研究，通过采集参与者的DNA样本对 和 的完整编码区（包括内含子/外显子边界）进行测序。
结果
DNA测序显示，两例患者均存在 基因突变，其中外显子1发生移码突变c.447delC（p.Ser149fsX156），外显子10发生无义突变c.2034T>G（p.Tyr678X）。对照组未检测到这两种突变。
结论
我们的研究结果扩展了 基因突变谱，揭示了台湾MHE患者中 和 突变的发生率相似。
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