VON HIPPEL-LINDAU (VHL) DISEASE WITH PHEOCHROMOCYTOMA IN THE BLACK-FOREST REGION OF GERMANY - EVIDENCE FOR A FOUNDER EFFECT
VON HIPPEL-LINDAU (VHL) DISEASE WITH PHEOCHROMOCYTOMA IN THE BLACK-FOREST REGION OF GERMANY - EVIDENCE FOR A FOUNDER EFFECT
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DOI：
10.1007/bf00223868
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发表时间：
1995-05-01
期刊：
影响因子：
5.3
通讯作者：
NEUMANN, HPH
中科院分区：
文献类型：
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作者：
BRAUCH, H;KISHIDA, T;NEUMANN, HPH
我们确定了一个种系错义突变在核苷酸505（T到C）的VHL肿瘤抑制基因在14个，显然无关，VHL 2A型家庭从黑森林地区的德国。这种突变先前在生活在美国宾夕法尼亚州的两个VHL 2A家族中被发现。所有受影响的个人在16个家庭共享相同的VHL单倍型表明创始人效应。密码子169处的这种错义突变（Tyr至His）可能会导致推定的VI-IL蛋白的结构改变。这种独特的突变与VHL中嗜铬细胞瘤表型的关联可能有助于阐明这种多肿瘤癌症综合征的致癌遗传机制。
We identified a germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany. This mutation was previously identified in two VHL 2A families living in Pennsylvania (USA). All affected individuals in the 16 families shared the same VHL haplotype indicating a founder effect. This missense mutation at codon 169 (Tyr to His) would probably cause an alteration in the structure of the putative VI-IL protein. The association of this distinct mutation with the pheochromocytoma phenotype in VHL may help to elucidate the genetic mechanism of carcinogenesis in this multi tumor cancer syndrome.