Holmes J A, Thompson P W
Department of Haematology, University of Wales College of Medicine, Cardiff.
J Med Genet. 1988 Apr;25(4):238-42. doi: 10.1136/jmg.25.4.238.
We report on the expression of fra(10)(q25) in a mother and daughter with familial chronic neutropenia. Differences in expression of the fragile site in bone marrow cells compared with peripheral blood lymphocytes were observed. Short term bone marrow cultures in complete medium showed high levels of spontaneous expression, whereas in 72 hour stimulated blood cultures it was virtually absent. There were also differences in the types of lesions found; chromosome type lesions predominated in the marrow and chromatid type in the blood. Apparent folate sensitivity of the fra(10)(q25) is also discussed.
我们报告了一名患有家族性慢性中性粒细胞减少症的母亲和女儿中fra(10)(q25)的表达情况。观察到骨髓细胞中脆性位点的表达与外周血淋巴细胞存在差异。在完全培养基中进行的短期骨髓培养显示出高水平的自发表达,而在72小时刺激的血液培养中几乎没有表达。所发现的病变类型也存在差异;染色体型病变在骨髓中占主导,而染色单体型病变在血液中占主导。还讨论了fra(10)(q25)明显的叶酸敏感性。