Study on the correlation between chromosomal abnormalities in peripheral blood cells and genetic diseases
外周血细胞染色体异常与遗传疾病的相关性研究

摘要

目的 本研究的主要目的是探讨外周血细胞染色体核型分析在遗传性疾病患者中的应用。方法 本研究纳入400例遗传性疾病患者，包括唐氏综合症、克氏综合征等，并与400例健康对照组进行比较。通过外周血细胞染色体核型分析，评估染色体异常的发生率，并进行统计学分析。结果 研究发现遗传性疾病患者中染色体异常发生率为40%，显著高于健康对照组。唐氏综合症患者的染色体异常发生率为60%，克氏综合征患者为15%。统计分析显示，染色体异常与患者的疾病的发生及临床特征有显著关联。结论 外周血细胞染色体核型分析在遗传性疾病患者的监测中具有重要临床意义，能够为早期诊断和个体化治疗提供依据。未来研究应进一步探索不同遗传性疾病中染色体异常的机制和临床影响。

Abstract

Objective The main purpose of this study is to explore the application of peripheral blood cell karyotype analysis in patients with genetic diseases.
Methods This study included 400 patients with genetic diseases, including Down syndrome, Klinefelter syndrome, etc., and compared them with 400 healthy controls. The incidence of chromosomal abnormalities was evaluated through karyotype analysis of peripheral blood cells and statistical analysis was performed.
Results The study found that the incidence of chromosomal abnormalities in patients with genetic diseases was 40%, which was significantly higher than that in healthy controls. The incidence of chromosomal abnormalities is 60% in people with Down syndrome and 15% in people with Klinefelter syndrome. Statistical analysis showed that chromosomal abnormalities were significantly associated with the occurrence and clinical characteristics of the patient's disease.
Conclusion   Chromosome karyotype analysis of peripheral blood cells has important clinical significance in monitoring patients with genetic diseases and can provide a basis for early diagnosis and individualized treatment. Future studies should further explore the mechanisms and clinical impact of chromosomal abnormalities in different genetic diseases.