Connor J M, Pirrit L A, Yates J R, Fryer A E, Ferguson-Smith M A
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow.
J Med Genet. 1987 Sep;24(9):544-6. doi: 10.1136/jmg.24.9.544.
Linkage analysis was undertaken in six families with tuberous sclerosis (TS) using a restriction fragment length polymorphism detected by v-abl. No recombinants were observed in 13 informative meioses (four phase known) giving a maximum lod score of 3.18 at zero recombination (confidence limits 0 to 0.15). This provides further evidence for the assignment of TS to 9q34 and should facilitate cloning of the structural gene, genetic counselling, and first trimester prenatal diagnosis.
利用v-abl检测到的限制性片段长度多态性，对六个结节性硬化症（TS）家族进行了连锁分析。在13个提供信息的减数分裂中（已知四个相位）未观察到重组，在零重组时获得最大对数优势分数为3.18（置信限为0至0.15）。这为将TS基因定位到9q34提供了进一步的证据，并且应该有助于结构基因的克隆、遗传咨询以及孕早期产前诊断。
