Chen S H, Scott C R, Edson J R, Kurachi K
Department of Pediatrics, University of Washington and Seattle 98195.
Am J Hum Genet. 1988 Apr;42(4):581-4.
A patient with moderate to severe hemophilia B has been found to have a large insertion within his factor IX gene. The site of insertion is located in a DNA segment of approximately 0.8 kb between exon IV and an EcoRI site within intron D. The size of the DNA insertion is approximately 6 kb, and it contains at least two TaqI sites, two EcoRI sites, and one HindIII site. The insert probably originates from outside the FIX gene and does not represent an internal duplication. We propose that this abnormal FIX gene be called FIX El Salvador in recognition of the birthplace of the patient.
一名中重度B型血友病患者被发现其凝血因子IX基因内有一个大的插入片段。插入位点位于外显子IV和内含子D内一个EcoRI位点之间约0.8 kb的DNA片段中。DNA插入片段大小约为6 kb，包含至少两个TaqI位点、两个EcoRI位点和一个HindIII位点。该插入片段可能起源于FIX基因之外，并非内部重复序列。我们建议将这个异常的FIX基因命名为FIX萨尔瓦多，以纪念患者的出生地。
