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近10年来,智力低下病因学研究中所取得的主要成就之一是鉴定了X连锁的智力低下与Xq28脆性部位有关。但至今关于脆性X产前诊断的研究却为数甚少。本文作者报道了一种在成纤维细胞和尿液上皮细胞株培养过程中用苯甲二氮唑(diazepam)和5-氟脱氧尿嘧啶核苷(FUdR),阻止有丝分裂和诱导脆性X表达的改良方法,并应用于羊水及绒毛细胞的染色体分析,对6例有脆性X发病风险的胎儿进行了产前诊断。
In the past 10 years, one of the major achievements in the study of etiology of mental retardation was the identification of the mental retardation of the X-linked and Xq28 fragile parts. However, to date, there are only a few studies on prenatal diagnosis of fragile X. The authors report an improvement of mitosis and induction of fragile X expression by diazepam and 5-fluorodeoxyuridine (FUdR) during the culture of fibroblasts and urine epithelial cell lines Methods: Chromosomal analysis of amniotic fluid and villus cells was performed, and prenatal diagnosis was performed on 6 fetuses at risk of developing brittle X.