Schröder W, Poetsch M, Gazda H, Werner W, Reichelt T, Knoll W, Rokicka-Milewska R, Zieleniewska B, Herrmann F H
Ernst-Moritz-Arndt University, Institute for Human Genetics, Greifswald, Germany.
Br J Haematol. 1998 Mar;100(4):750-7. doi: 10.1046/j.1365-2141.1998.00621.x.
Haemophilia B is an X-linked recessive bleeding disorder caused by mutations in the factor IX gene with an incidence of 1:25000-30000. Usually female carriers are clinically normal, and severe phenotypic expression of the disease in females is extremely rare. In this report we describe a girl with a clinically severe course of haemophilia B who had no signs of Turner syndrome or any other dysmorphic features. Cytogenetic and molecular studies in the patient and her parents showed a de novo translocation 46,X,t(X;15)(q27.1;p11.2) in the patient, indicating a possible break near the factor IX gene. The structurally normal X chromosome was late replicating and inactivated in all metaphases as shown by high-resolution R-banding. By fluorescence in situ hybridization (FISH) with YAC and cosmid probes we could further characterize the breakpoint region on the X chromosome and the involvement of the factor IX gene.
乙型血友病是一种X连锁隐性出血性疾病，由凝血因子IX基因突变引起，发病率为1:25000 - 30000。通常女性携带者临床症状正常，女性患者出现严重表型的情况极为罕见。在本报告中，我们描述了一名患有临床严重型乙型血友病的女孩，她没有特纳综合征或任何其他畸形特征的迹象。对该患者及其父母进行的细胞遗传学和分子研究显示，患者存在一种新发的易位46,X,t(X;15)(q27.1;p11.2)，这表明在凝血因子IX基因附近可能发生了断裂。如高分辨率R显带所示，结构正常的X染色体在所有中期均晚复制且失活。通过使用酵母人工染色体（YAC）和黏粒探针进行荧光原位杂交（FISH），我们能够进一步确定X染色体上的断点区域以及凝血因子IX基因的受累情况。
