960例21号染色体异常核型分析

目的 分析30年DS患儿及父母相关资料,为荧光PCR毛细管电泳法快速诊断DS的研究和应用提供科学依据.方法 按常规外周血淋巴细胞培养方法制备染色体标本,经G显带分析,计数30或100个中期分裂相,分析3～5个或5～10个核型,按ISCN标准确定核型结果,采用x2检验统计分析.结果 30年间,DS患儿构成比显著增长,DS患儿构成比男童高于女童,标准型患儿占88.60％,易位型占6.18％,嵌合型占5.11％,20年DS患儿母亲孕龄增加3.5岁.结论 DS是危害儿童健康最主要的遗传病,应不断提高和改进DS的产前筛查及快速诊断技术,加强孕前和孕期DS相关知识宣贯,降低出生缺陷,提高人口素质.

Analysis of abnormal karyotypes of chromosome 21 from 960 cases

OBJECTIVE To analyze the relevant information of DS children and their parents in the past 30 years in order to provide scientific basis for research and application of rapid diagnosis of DS by using the fluorescent PCR capillary electrophoresis method.METHODS Chromosome was prepared by conventional peripheral blood lymphocytes culture and G-banding was carried out to analyzing metakinesis and karyotypes.Used χ2 test in statistical analysis.RESULTS In the past 30 years,the proportions of DS children significantly increased,constituent ratio of boys was higher than girls.The children with standard karyotype was 88.60%,with translocation karyotypes was 6.18%,with mosaic karyotype was 5.11%.In the past 20 years,the gestational age of DS children’s mothers increased by 3.5 years.CONCLUSION DS is the most important genetic disease which is harmful to children’s health.We should continue to enhance and improve the prenatal screening and the rapid diagnostic techniques of DS in order to reduce birth defects and improve population quality.