期刊
CYTOGENETIC AND GENOME RESEARCH
卷 144, 期 1, 页码 15-27出版社
KARGER
DOI: 10.1159/000366251
关键词
Chromosome breakage; Diepoxybutane; Fanconi anemia; Inherited bone marrow failure; Mitomycin C
资金
- Intramural Program of the National Institutes of Health
- National Cancer Institute [N02-CP-11019, N02-CP-65504, N02-CP-65501]
- National Institutes of Health, Heart, Lung, and Blood Institute [NIH/NHLBI 5 P01 HL048546]
Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome (IBMFS). Affected individuals must be distinguished from relatives, patients with mosaicism must be identified, and patients with other IBMFS classified as non-FA. The diagnostic feature of FA is increased chromosomal breakage in blood lymphocytes cultured with diepoxybutane or mitomycin C. Here, we sought a method to uniquely identify patients with FA with mosaicism, using cells from participants in the National Cancer Institute IBMFS cohort. Lymphocytes were treated with diepoxybutane or mitomycin C, and metaphases scored for breaks and radials. Analyses included the percentage of cells with any aberration, breaks per cell, and breaks per aberrant cell. There were 26 patients with FA (4 mosaics), 46 FA relatives, and 62 patients with a non-FA IBMFS. By all analytic methods, patients with FA were abnormal compared with other groups. Those with FA mosaicism had more breakage than relatives or patients with non-FA IBMFS, but there was some individual overlap. The choices of clastogen are laboratory-dependent, but there was no method or analysis of lymphocytes that clearly distinguished all individuals mosaic for FA from relatives or patients with other IBMFS. Thus, genotyping remains the best method for providing absolute clarity. (C) 2014 S. Karger AG, Basel.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据