Kaneko H, Inoue R, Fukao T, Kasahara K, Tashita H, Teramoto T, Kondo N
Department of Pediatrics, Gifu University School of Medicine, Tukasa-mati, Japan.
Leuk Lymphoma. 1997 Nov;27(5-6):539-42. doi: 10.3109/10428199709058322.
Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous telangiectasia of the face, sun sensitivity, infertility and stunted growth. Upper respiratory tract and gastrointestinal infections are commonly associated with the decreased immunoglobulin levels found in BS patients. Chromosomal abnormalities are hallmarks of the disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are virtually diagnostic. Recently, the causative gene for BS (BLM) has been identified. We encountered and defined a family with a nonsense mutation in BLM. The brother and sister were homozygous for the mutation and both developed B-cell malignant lymphoma in their twenties. These findings indicate the importance of prenatal diagnosis and the detection of BS carriers based on molecular genetic analysis.
布卢姆综合征（BS）是一种罕见的常染色体隐性遗传病，其特征为面部出现类似狼疮的红斑性毛细血管扩张、对日光敏感、不育及生长发育迟缓。上呼吸道和胃肠道感染通常与布卢姆综合征患者免疫球蛋白水平降低有关。染色体异常是该疾病的标志，淋巴细胞和成纤维细胞中姐妹染色单体交换和四射体构型的高频率出现实际上具有诊断意义。最近，已确定了布卢姆综合征的致病基因（BLM）。我们遇到并确定了一个在BLM基因中有无义突变的家族。该家族中的兄妹均为该突变的纯合子，两人均在二十多岁时患上了B细胞恶性淋巴瘤。这些发现表明了基于分子遗传学分析进行产前诊断和检测布卢姆综合征携带者的重要性。
