Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).
Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).
复制标题
两个新的点突变与凝血因子 IX（血友病 B Leyden 表型）发育表达的改变相关。
作者：
P. Reitsma;T. Mandalaki;C. Kasper;R. Bertina;E. Briët
B莱顿血友病的特点是15岁前因子IX抗原和活性水平低，而青春期后因子IX水平以每年约5%的速度上升。在一名希腊和一名美国血友病B Leyden患者的因子IX基因+13位发现了两个不同的点突变（A， A----G的缺失）。核苷酸变化发生在先前报道的具有相同血友病表型的荷兰亲属的点突变下游32个碱基对。这些结果指出了围绕因子IX基因组成表达的假定起始位点的序列的重要性，以及DNA不完全直接重复的可能意义。
Hemophilia B Leyden is characterized by low levels of factor IX antigen and activity before the age of 15 years, whereas after puberty factor IX levels rise at a rate of about 5% per year. Two distinct point mutations (deletion of A, A----G) were identified at position +13 of the factor IX gene of a Greek and an American patient with hemophilia B Leyden. The nucleotide changes have occurred 32 basepairs downstream of a previously reported point mutation in a Dutch kindred with the same hemophilic phenotype. The results point to the importance of sequences surrounding the putative start site for the constitutive expression of the factor IX gene and to the possible significance of an imperfect direct repeat of DNA.
影响因子：
2.9
作者：
YOSHITAKE, S;SCHACH, BG;KURACHI, K
通讯作者：
KURACHI, K