Identification of two complementation groups in Fanconi anemia
Identification of two complementation groups in Fanconi anemia
复制标题
范可尼贫血中两个互补组的鉴定
DOI：
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发表时间：
1985
期刊：
影响因子：
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通讯作者：
M. Buchwald
中科院分区：
文献类型：
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作者：
G. Duckworth;K. Cornish;C. Clarke;M. Buchwald
范可尼贫血(FA)患者的临床表现和他们的细胞对DNA损伤剂的敏感程度有很大的差异。我们通过测试FA细胞构建的体细胞杂交中的互补性，验证了遗传异质性是这种变异的基础的假设。融合来自4个不同FA患者的淋巴母细胞系，形成杂交细胞系。通过检测杂交细胞对丝裂霉素C(MMC)抑制生长的敏感性、自发染色体断裂和MMC诱导的染色体断裂来检测FA中细胞缺陷的补充性。这些研究揭示了至少两个互补基团的存在，表明可能存在两个或更多不同的FA基因。
Considerable variation can be observed in the clinical presentation of Fanconi anemia (FA) patients and in the degree of sensitivity of their cells to DNA damaging agents. We have examined the hypothesis that genetic heterogeneity underlies this variation by testing for complementation in somatic cell hybrids constructed from FA cells. Hybrids were formed by fusing lymphoblastoid cell lines derived from four different FA patients. Complementation of the cellular defects in FA was tested by examining sensitivity to growth inhibition by mitomycin C(MMC), spontaneous chromosome breakage, and MMC-induced chromosome breakage in the hybrid cells. These studies revealed the presence of at least two complementation groups, suggesting that there may be two or more different FA genes.
来自患有特征遗传性疾病的患者的 53 种人二倍体成纤维细胞株的 X 射线敏感性。
影响因子：
11.2
作者：
Weichselbaum,RR;Nove,J;Little,JB
通讯作者：
Little,JB