Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16
复制标题
16号染色体上结节性硬化症基因的突变和多态性
作者：
K. Au;Joseph A. Rodriguez;Estanislado Rodriguez;W. Dobyns;M. Delgado;H. Northrup
结节性硬化症(TSC)是一种常染色体显性遗传病，表现为良性肿瘤形成、错构瘤和错构瘤。TSC已被证明是遗传异质性的，一个致病基因定位在染色体9q(标记为TSC1)，至少另一个基因位于染色体16p(标记为TSC2)。最近克隆了TSC2基因。我们用Southern blotting方法检测了88个TSC先证者的TSC2基因的总缺失/重排/插入。我们检测到两个缺失和一个罕见的基因内多态变异。这与原始报告中的突变检测率(10/260/；3.8%)相似(2/88；2.3%)。这种罕见的多态变异最初是在一个9号染色体连锁的多重TSC家族的先证者中发现的。这种多态与先前在16号染色体上检测到的标记分离，与疾病基因无关，验证了该变异与TSC状态无关。我们还开始通过SSCA和直接测序寻找细微的突变。在筛选了三个外显子后，我们发现了两个基因内的多态变异。这两种多态都很常见，这使得它们对已知受影响家庭的连锁研究很有用。©1997 Wiley-Liss，Inc.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of benign tumor formation, hamartomata, and hamartias. TSC has been shown to be genetically heterogeneous, with one causative gene mapping to chromosome 9q (denoted TSC1) and at least one other gene on chromosome 16p (denoted TSC2). The TSC2 gene was recently cloned. We have tested 88 TSC probands with the TSC2 cDNA by Southern blotting searching for gross deletions/rearrangements/insertions. We detected two deletions and a rare intragenic polymorphic variant. This is a similar rate of mutation detection (2/88; 2.3%) to that in the orignial report (10/260/;3.8%). The rare polymorphic variant was initially detected in the proband of a chromosome 9‐linked multiplex TSC family. The polymorphism segregated with previously tested markers on chromosome 16 independently of the disease gene, verifying that the variation was unrelated to TSC status. We have also begun searching for subtle mutations by SSCA and direct sequencing. After screening three exons, we found two intragenic polymorphic variants. Both polymorphisms are common, making them useful for linkage studies in known affected families. © 1997 Wiley‐Liss, Inc.
结节性硬化症遗传异质性的证据：第 9 号染色体上的一个基因座和其他地方的至少一个基因座。
影响因子：
9.8
作者：
Northrup,H;Kwiatkowski,DJ;Roach,ES;Dobyns,WB;Lewis,RA;Herman,GE;RodriguezJr,E;Daiger,SP;Blanton,SH
通讯作者：
Blanton,SH