A deletion mutation causes hemophilia B in Lhasa Apso dogs
A deletion mutation causes hemophilia B in Lhasa Apso dogs
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DOI：
10.1182/blood.v88.9.3451.bloodjournal8893451
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发表时间：
1996-11-01
期刊：
影响因子：
20.3
通讯作者：
Lothrop, CD
中科院分区：
文献类型：
--
作者：
Mauser, AE;Whitlark, J;Lothrop, CD
B型血友病是由凝血因子IX（FIX）缺乏引起的出血性疾病，建立了FIX缺陷拉萨犬的群体，并确定了血友病B的分子基础。血浆IX因子水平在核苷酸777处发生T转变，该突变导致mRNA不稳定和编码激活肽的核苷酸序列中提前终止密码子。通过对 FIX 缺陷狗的基因组 DNA 进行测序来验证该突变，并利用异源双链分析建立了用于检测杂合动物的基因测试。尽管 B 型血友病已在许多犬种中被描述，但这只是第二个被测序的突变。拉萨犬模型对于评估治疗 B 型血友病的新策略（例如基因治疗）应该很有价值。 (C) 1996 年，美国血液学会。
Hemophilia B is a bleeding disorder caused by a deficiency of clotting factor IX (FIX), A colony of FIX deficient Lhasa Apso dogs has been established and the molecular basis of hemophilia B has been determined, The plasma factor IX levels were T transition at nucleotide 777, The mutation results in mRNA instability and a premature termination codon in the nucleotide sequence encoding the activation peptide. The mutation was verified by sequencing genomic DNA from an FIX-deficient dog, A genetic test for the detection of heterozygous animals was established using heteroduplex analysis, Although hemophilia B has been described in many dog breeds, this is only the second mutation to be sequenced. The Lhasa Apso dog model should be valuable for evaluating novel strategies for treating hemophilia B such as gene therapy. (C) 1996 by The American Society of Hematology.