9号染色体异染色质区的变异分析

Aberration analysis of chromosome 9 heterochromatin

目的分析疑有染色体异常个体的9号染色体异染色质区的变异。方法采集疑有染色体异常的3075名个体静脉血,其中男性1653例,女性1422例,以1515名正常人作对照,培养其淋巴细胞进行染色体核型分析。结果疑有染色体异常个体的9号染色体异染色质区的变异率为5.56%,而正常对照组9号染色体异染色质区的变异率仅为1.32%,9号染色体异染色质区的变异包括9qh+、9qh-及inv(9)。结论疑有染色体异常个体的9号染色体异染色质区的变异率高于正常人4.2倍(P<0.01),这说明9号染色体异染色质区的变异可能参与一些染色体病的发生。

Objective： To analysis the aberration of chromosome 9 heterochromatin for persons suspected to have chromosome abnormalities. Methods： Peripheral blood samples were obtained from 3075 persons suspected to have chromosome abnormalities （ 1653 males and 1422 females）. 1515 normal individuals were used as a control group. Chromosome karyotype was made from cultured lymphocyte. Results： The aberration rate of chromosome 9 heterochromatin including 9qh ＋, 9qh -, and inv （9） was 5.56% for persons suspected to have chromosome abnormalities. The aberration rate of chromosome 9 heterochromatin was only 1.32% for normal individuals. Conclusion： The aberration rate of chromosome 9 heterochromatin is 4. 2 times for persons suspected to have chromosome abnormalities higher than for normal individuals （ P 〈0.01 ）. This study suggests that the aberration of chromosome 9 heterochromatin may contribute to chromosomal disease.