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本研究应用分子生物学及细胞遗传学技术,对40例性分化异常的儿童进行外周血染色体分析及PCR检测SRY基因,探讨儿童性分化异常的细胞及分子水平的原因。研究表明常染色体、性染色体畸变、SRY基因的突变及性激素和受体的异常,均可导致儿童性分化异常。正确分析儿童性分化异常的原因,早期采取治疗措施,对提高我国人口素质具有重要的现实意义。
In this study, we used molecular biology and cytogenetics techniques to analyze the peripheral blood chromosomal analysis and PCR detection of SRY gene in 40 cases with abnormally differentiated children and to explore the causes of abnormal cellular and molecular levels in children. Studies have shown that autosomal, sex chromosome aberration, SRY gene mutations and sex hormones and receptor abnormalities, can lead to abnormal sexual differentiation in children. Correct analysis of the causes of abnormal sexual differentiation in children, early treatment measures to improve the quality of our population has important practical significance.