Guissani U, Facchinetti B, Cassina G, Zuffardi O
Centro Trasfusionale, OO.RR. di Bergamo, Italy.
Ann Hum Genet. 1996 Mar;60(2):91-7. doi: 10.1111/j.1469-1809.1996.tb01180.x.
Routine Q-banding chromosome analysis detected the jumping behaviour of bright fluorescent chromosome 22 satellites (22s+) in two unrelated males (case 1 ascertained for recurrent abortions and case 2 for infertility), and in the mother of one of them, all with a normal karyotype. The 22s+ was present in more than 90% of the cells. In a minority of the cells the polymorphism was present alternatively on another acrocentric, on one chromosome 22 and on another acrocentric, on both chromosomes 22 or it was absent. We take these findings as evidence of mitotic exchanges between the short arms of the acrocentric chromosomes. The presence of a stable 22s+ in the fibroblasts of case 1 and in the lymphocytes of his son indicates that acrocentric short arm exchanges depend both on the type of tissue and on the genetic content of all the other acrocentrics.
常规Q带染色体分析在两名无亲缘关系的男性(病例1因反复流产确诊,病例2因不育确诊)及其一名男性的母亲中检测到明亮荧光的22号染色体卫星(22s+)的跳跃行为,他们的核型均正常。超过90%的细胞中存在22s+。在少数细胞中,多态性交替出现在另一条近端着丝粒染色体上、一条22号染色体上和另一条近端着丝粒染色体上、两条22号染色体上,或者不存在。我们将这些发现视为近端着丝粒染色体短臂之间有丝分裂交换的证据。病例1的成纤维细胞及其儿子的淋巴细胞中稳定存在22s+,这表明近端着丝粒短臂交换既取决于组织类型,也取决于所有其他近端着丝粒的遗传内容。