遗传 ›› 1999, Vol. 21 ›› Issue (1): 11-15.
张坚宣1)史庆华1)潘淑娟1)张锡然1)单祥年2)余龙3) ZHANG Jian-Xuan1)SHI Qing-Hua1)PAN Shu-Juan1)ZHANG Xi-Ran1)SHAN Xiang-Nian2)YU Long3)
摘要: 21三体是人类最常见的先天性疾病,约95%患儿的超数21号染色体来源于母亲,且随母龄增加患儿出生率也随之增加。本文首次运用胞质分裂阻滞法(CB法)对不同年龄女性体细胞进行荧光原位杂交,对其21号染色体的分离情况进行分析。结果表明,随年龄的增加,女性体细胞中21号染色体不分离也随之增加,但21号染色体丢失无年龄效应, 且21号染色体不分离频率远高于其丢失。该结果表明,女性体细胞中21号染色体不分离与生殖细胞同样存在年龄效应。
Abstract Trisomy 21 is the most common genetic desease in human. More than 90% is derived from mother. With the advancing of mother's age, the frequency of trisomy 21 is increasing. We detected the relation between chromosome 21 missegregation and age in cytokinesis-blocked female lymphocytes by in situ hybridization with chromosome 21 specfic probe. We have found that the age effect also exists in female somatic cells as in gamets.