Dewald G W, Noonan K J, Spurbeck J L, Johnson D D
Am J Hum Genet. 1986 Apr;38(4):520-32.
Among 11,915 consecutive patients and 37 normal controls who had chromosome analysis at the Mayo Clinic between 1978 and 1984, 83 had a single sporadic metaphase with a 7;14 translocation. In 81 of the translocations, the breakpoints were at 14q11 and either 7q34 (type I) or 7p13 (type II): type I translocations occurred in 42 patients, and type II, in 39. The two other translocations had different breakpoints: one was t(7;14)(q11;q32), and the other was t(7;14)(p13;q32). All type I and type II translocations occurred in phytohemagglutinin-stimulated lymphocyte cultures; their combined incidence was 4.88 X 10(-4) per metaphase (81 of 165,991 metaphases) in such cultures. No type I or II translocation was found among 6,713 fibroblast metaphases, 33,463 amniocyte metaphases, or 68,972 bone marrow and unstimulated peripheral blood metaphases. One variant 7;14 translocation occurred in a phytohemagglutinin-stimulated culture, and the other occurred in a fibroblast culture. We did not find a correlation of sporadic 7;14 translocations with any month or season of the year or with patient age or sex. Of the 83 patients, 78 had various clinical disorders, three had ataxia-telangiectasia, one was a normal control, and one was an artificial insemination donor. Follow-up studies on 64 (77%) patients indicate that, to date, none have developed any malignant process subsequent to chromosome analysis. Except for ataxia-telangiectasia, the occurrence of types I and II translocations in lymphocyte cultures may have little, if any, clinical significance. The biological significance of these translocations may be the association of genes in chromosome bands 14q11, 7p13, and 7q34 with the normal physiology of lymphocytes such as the alpha- and beta-chains for T-cell antigen receptor.
在1978年至1984年间于梅奥诊所接受染色体分析的11915例连续患者及37例正常对照中,83例有一个单一的散发性中期细胞带有7;14易位。在81例易位中,断点位于14q11以及7q34(I型)或7p13(II型):I型易位发生在42例患者中,II型发生在39例患者中。另外两例易位有不同的断点:一例是t(7;14)(q11;q32),另一例是t(7;14)(p13;q32)。所有I型和II型易位均发生在植物血凝素刺激的淋巴细胞培养物中;在这类培养物中,它们的合并发生率为每中期细胞4.88×10⁻⁴(165991个中期细胞中有81例)。在6713个成纤维细胞中期细胞、33463个羊膜细胞中期细胞或68972个骨髓及未刺激外周血中期细胞中未发现I型或II型易位。一个变异的7;14易位发生在植物血凝素刺激的培养物中,另一个发生在成纤维细胞培养物中。我们未发现散发性7;14易位与一年中的任何月份或季节、患者年龄或性别之间存在相关性。83例患者中,78例有各种临床疾病,3例有共济失调毛细血管扩张症,1例是正常对照,1例是人工授精供者。对64例(77%)患者的随访研究表明,迄今为止,在染色体分析后无一例发生任何恶性病变。除共济失调毛细血管扩张症外,淋巴细胞培养物中I型和II型易位的发生可能几乎没有临床意义(如果有意义的话)。这些易位的生物学意义可能是14q11、7p13和7q34染色体带中的基因与淋巴细胞的正常生理功能相关,如T细胞抗原受体的α和β链。