Fundia A, Gorla N, Larripa I
Sección Citogenética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Capital Federal, República Argentina.
Hereditas. 1994;120(1):47-50. doi: 10.1111/j.1601-5223.1994.00047.x.
Spontaneous chromosome aberrations (CA) were analyzed in 3 Fanconi's anemia (FA) patients, 8 family members, and 9 healthy individuals. Peripheral blood lymphocytes obtained from each individual were cultured and cytogenetic analysis was performed on standard and sequential G-banded metaphases. The numbers of abnormal cells and breaks were found to be higher in AF patients compared to the other groups (p < 0.0001). Breakpoint distribution was statistically analyzed considering the formula proposed by Brøgger (1977), showing a non-random pattern among FA patients but not among controls or relatives (p < 0.001). Five chromosomal bands located at 1p36, 1p22, 1q21, 3p14, and 3q21 were non-randomly involved in spontaneous CA in FA patients. These bands were correlated with the chromosomal location of fragile sites, oncogenes, and breakpoints involved in cancer-rearrangements. A significant correlation with the location of fragile sites (p < 0.03) and breakpoints involved in cancer-rearrangements (p < 0.001), particularly with AML chromosome anomalies (p < 0.03) was found, suggesting a possible relationship with the high predisposition to cancer observed in this disease.
对3例范可尼贫血（FA）患者、8名家庭成员和9名健康个体的自发染色体畸变（CA）进行了分析。从每个个体获取外周血淋巴细胞进行培养，并对标准和连续G显带中期相进行细胞遗传学分析。结果发现，与其他组相比，FA患者的异常细胞数和断裂数更高（p < 0.0001）。根据布罗格（1977年）提出的公式对断点分布进行统计学分析，结果显示FA患者中存在非随机模式，而对照组或亲属中则不存在（p < 0.001）。位于1p36、1p22、1q21、3p14和3q21的五条染色体带在FA患者的自发CA中被非随机累及。这些带与脆性位点、癌基因以及癌症重排中涉及的断点的染色体定位相关。发现与脆性位点的定位（p < 0.03）以及癌症重排中涉及的断点（p < 0.001），特别是与急性髓系白血病染色体异常（p < 0.03）存在显著相关性，这表明与该疾病中观察到的高癌症易感性可能存在关联。
