Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.
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DOI：
10.3346/jkms.2009.24.1.77
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发表时间：
2009-02
影响因子：
4.5
通讯作者：
Kim JW
中科院分区：
文献类型：
--
作者：
Cho HJ;Ki CS;Kim JW
希佩尔-林道（VHL）病是一种常染色体显性遗传性肿瘤综合征，其特征是在眼睛、大脑、脊髓、内耳、肾上腺、胰腺、肾脏和附睾发生肿瘤，与VHL基因的种系突变相关。我们采用序列测序法和多重结扎依赖探针扩增（MLPA）分析，在15/15（100%）符合临床标准的VHL患者中检测到VHL的种系突变。在检测到的15个明显突变中，有5/15（33.3%）患者检测到大缺失，其中MLPA检测到部分缺失4/15(26.7%)，全VHL基因缺失1/15(6.6%)，其余为测序法检测到的点突变，其中5个突变为新突变。使用MLPA分析，我们检测到包括部分缺失和完全基因缺失在内的大缺失，这在韩国VHL患者中尚未报道。综上所述，序贯测序方法和MLPA分析可能使大多数VHL患者的种系突变鉴定成为可能。
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis, associated with germline mutations in the VHL gene. We used sequentially sequencing method and multiple ligation-dependent probe amplification (MLPA) analysis and detected germline mutations in the VHL in 15/15 (100%) of VHL patients fulfilling the clinical criteria. Of the 15 distinct mutations detected, large deletions were detected in 5/15 (33.3%) patients, including 4/15 (26.7%) partial deletions and 1/15 (6.6%) deletion of the entire VHL gene by MLPA and the remainder were point mutations detected by sequencing method, of which five mutations were novel. Using MLPA analysis, we detected large deletions including both partial deletions and complete gene deletion, which has not been reported in Korean VHL patients. In conclusion, sequential application of sequencing method and MLPA analysis might make possible to identify germline mutations in most patients with VHL.
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