Fryer A E, Chalmers A, Connor J M, Fraser I, Povey S, Yates A D, Yates J R, Osborne J P
Lancet. 1987 Mar 21;1(8534):659-61. doi: 10.1016/s0140-6736(87)90416-8.
Linkage analysis was undertaken in nineteen families with tuberous sclerosis by use of 26 polymorphic markers. All affected members fulfilled strict diagnostic criteria and unaffected members were rigorously investigated to confirm their status. Maximum lod scores were 1.20 for adenylate kinase 1 (AK1) at zero recombination and 3.85 for the ABO blood group at zero recombination (confidence limits 0-0.10). These findings support the assignment of the gene for tuberous sclerosis to the distal long arm of chromosome 9.
通过使用26个多态性标记，对19个结节性硬化症家族进行了连锁分析。所有受影响成员均符合严格的诊断标准，对未受影响成员进行了严格调查以确认其状态。腺苷酸激酶1（AK1）在零重组时的最大lod分数为1.20，ABO血型在零重组时的最大lod分数为3.85（置信区间0 - 0.10）。这些发现支持将结节性硬化症基因定位于9号染色体长臂远端。
