He L Z, Lu L H, Chen Z Z
Fujian Institute of Hematology, Fuzhou, China.
Cancer Genet Cytogenet. 1994 Aug;76(1):65-9. doi: 10.1016/0165-4608(94)90074-4.
This paper describes a family in which seven members, involving three consecutive generations, suffered from acute myeloid leukemia during the past 16 years. The genetic abnormalities were vertically transmitted in a Mendelian dominant manner without sex linkage. Cytogenetic approaches, such as G-banding karyotypes, micronuclei (MN), chromosome aberrations (CA), fragile sites (Fra), cell cycle time (Tc), sister chromatid exchanges (SCE), silver-staining nucleolar organizer regions (Ag-NOR), and silver-staining acrocentric chromosome satellite association (Ag-AA), were investigated on 19 presently healthy members of the family, compared with 10 normal controls. The results showed that their G-banding chromosome karyotypes were normal, without a single similarly located fragile site being found to be carried commonly by the blood relations, although the rare fragile site frequency in the blood relations group was higher than that in the non-blood relations group or normal controls. On the other hand, SCE and Ag-NOR were lowered in the blood relations. In III-13 and IV-3 of the pedigree, in particular, the prolonged cell cycle time with distinctly abnormal SCE and Ag-NOR might predict a high risk for leukemia. Hence the follow-up of this remarkable family is being continued.
本文描述了一个家族，在过去16年里，该家族三代人中的7名成员患有急性髓细胞白血病。遗传异常以孟德尔显性方式垂直传递，无性别连锁。对该家族19名目前健康的成员进行了细胞遗传学研究，方法包括G显带核型分析、微核（MN）、染色体畸变（CA）、脆性位点（Fra）、细胞周期时间（Tc）、姐妹染色单体交换（SCE）、银染核仁组织区（Ag-NOR）和银染近端着丝粒染色体随体联合（Ag-AA），并与10名正常对照进行了比较。结果显示，他们的G显带染色体核型正常，未发现血缘亲属中存在共同携带的单一相同位置的脆性位点，尽管血缘亲属组中罕见脆性位点的频率高于非血缘亲属组或正常对照组。另一方面，血缘亲属中的SCE和Ag-NOR降低。特别是在该家系的III-13和IV-3中，细胞周期时间延长，SCE和Ag-NOR明显异常，这可能预示着患白血病的高风险。因此，对这个特殊家族的随访仍在继续。
