摘要
目的在正常人群中存在一定比例的染色体异常,同样在正常捐精者中也是,本文对405例捐精者进行染色体核型分析,探讨对捐精者进行染色体检查的必要性。资料与方法405例对象来自2001.9-2008.12上海人类精子库初筛精液合格的捐精者,平均年龄25.8岁。采用外周血淋巴细胞培养,常规制备染色体,G显带合并C显带,采用染色体图像分析软件,按"人类细胞学命名国际体制"进行染色体核型分析。每例计数20个中期分裂相,分析3-5个核型,异常者计数50个中期分裂相。结果405例捐精者中发现染色体异常36例(8.89%),其中平衡易位2例;染色体变异34例。结论对捐精者进行染色体检查是必要的,可避免染色体异常通过人工授精传给子代,对降低遗传病的发病率,提高人口素质,搞好优生优育具有一定的实践意义;同时,对捐精者中染色体平衡异位携带者及染色体变异者及时做出诊断,进行遗传咨询,可及早给予积极有效的干预。
Objective: There are a certain proportion of chromosomal abnormalities existence in the normal population, in the same normal donor also, this paper carried out 405 cases of sperm karyotype analysis and explore the need for chromosome examination of donor. Methods: The 405 cases of objects from 2001.9 -2008. 12 Shanghai Human Sperm Bank screening qualified donor semen, the average age of 25. 8 years old. The use of peripheral blood lymphocyte culture, conventional chromosome preparation, G - banding combined C -banding, using the chromosome image analysis software, according to "human cytology named the international system" to carry out karyotype analysis. Each of example counts 20 the mid - splitting phase, analysis 3 - 5 Karyotype, abnormal example count of 50 mid -splitting phase. Results: 36 cases chromosomal abnormalities were found in 405 cases of sperm (8. 89% ), two cases of balanced translocation ; 34 cases of chromosome variation. Conclusion : Chromosome sperm to carry out inspections are necessary to avoid chromosomal abnormalities to their offspring through artificial insemination, to reduce the incidence of genetic diseases, improve the quality of the population, do a good job of birth has a certain practical significance ; At the same time, donations fine balance among the chromosomes and chromosome mutation carriers will do timely diagnosis and genetic counseling, to give active and effective early intervention.
出处
《中国优生与遗传杂志》
2009年第8期38-38,40,共2页
Chinese Journal of Birth Health & Heredity