Ghanem N, Costes B, Martin J, Vidaud M, Rothschild C, Foyer-Gazengel C, Goossens M
Laboratoire de Génétique Moléculaire, INSERM U91, Hôpital Henri-Mondor, Créteil, France.
Eur J Hum Genet. 1993;1(2):144-55. doi: 10.1159/000472401.
Full scanning of the factor IX gene by means of denaturing gradient gel electrophoresis enabled us to determine the molecular defects in 48 out of 49 hemophiliacs and to evaluate the spectrum of factor IX mutations in the French population. Our results further document the high molecular heterogeneity of the disease and the efficiency of this rapid screening method for disease-causing mutations. This direct approach, which is based on computer-aided analysis of the whole coding, promoter and exon-flanking factor IX gene sequences, proved to be helpful for carrier detection and prenatal diagnosis in most hemophilia B families, including sporadic cases. Moreover, we were able to identify 24 novel molecular defects of various natures in the factor IX gene.
通过变性梯度凝胶电泳对凝血因子IX基因进行全面扫描，使我们能够确定49名血友病患者中48人的分子缺陷，并评估法国人群中凝血因子IX突变的谱系。我们的结果进一步证明了该疾病的高分子异质性以及这种快速筛查致病突变方法的有效性。这种基于对凝血因子IX基因整个编码区、启动子和外显子侧翼序列进行计算机辅助分析的直接方法，在大多数B型血友病家庭（包括散发病例）中，被证明有助于携带者检测和产前诊断。此外，我们能够在凝血因子IX基因中鉴定出24种不同性质的新分子缺陷。
