Au K S, Murrell J, Buckler A, Blanton S H, Northrup H
Department of Pediatrics, University of Texas Medical School Houston 77030, USA.
J Med Genet. 1996 Jul;33(7):559-61. doi: 10.1136/jmg.33.7.559.
A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeric end of the critical region, which contains three genes and three to four additional exons for which the associated genes have not been delineated. This information serves to further the search for the TSC1 gene.
对一个结节性硬化症的多代大家庭进行了研究，该家庭与位于9号染色体q上来自TSC1区域的标记物连锁。使用该区域一个新的高度多态性标记物（命名为A6）进行研究。一名关键的患者与该标记物发生了重组，从关键区域的端粒末端消除了大约100千碱基，该区域包含三个基因以及另外三到四个外显子，与之相关的基因尚未确定。这些信息有助于进一步寻找TSC1基因。
