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目的探讨短串联重复序列聚合酶链反应技术(STR-PCR)诊断染色体三体应用价值。方法2003年12月至2005年2月对广州医学院第三附属医院染色体结果已知的50例正常样本和17例唐氏综合征(Down’s)患者样本进行STR-PCR检测。结果50例正常样本的21、18、13号染色体数目检出符合率为82%、96%、96%,假阳性率为2%;17例唐氏综合征患者的检出率为100%;11例Down’s患者家庭中,除3例额外的21号染色体来源不能判定外,8例均来源于母亲,其中7例来源减数分裂Ⅰ不分离,1例来源减数分裂Ⅱ不分离。结论STR-PCR技术可以快速诊断Down’s等常见染色体三体,并判断额外染色体的来源及发生阶段。
Objective To investigate the value of short tandem repeat polymerase chain reaction (STR-PCR) in diagnosis of trisomy. Methods From December 2003 to February 2005, STR-PCR was performed in 50 normal samples with known chromosomal results and 17 patients with Down’s syndrome in the Third Affiliated Hospital of Guangzhou Medical College. Results The coincidence rate was 82%, 96%, 96% and the false positive rate was 2% in 50 normal samples. The detection rate was 100% in 17 cases of Down Syndrome. Among 11 cases of Down’s family, all 8 cases were from mothers, except 3 cases with extra source of chromosome 21, of which 7 cases were from meiosis Ⅰ and 1 from meiosis Ⅱ. Conclusion STR-PCR can be used to rapidly diagnose the common trisomy of Down’s and determine the origin and stage of additional chromosomes.