摘要
本文采用两种不同的诱导脆性X表达的方法,对45例遗传咨询门诊患者及其有关亲属进行了研究,发现了8个脆性X综合征家系。通过两种方法的对比,发现5-氟尿嘧啶核苷加咖啡因诱导脆性X表达的方法,有助于检出脆性X表达频率较低的个体,并对脆性X综合征与多动症的关系,脆性位点Xq26与智力低下的关系进行了讨论。
Forty-five patients and their relatives under the coverage of our genetic counselling clinic were studied by two different methods of fragile site induction. Eight fra(Ⅹ) families were found. In comparing the two methods of fragile sits induction, we noted that induction by FUdR and caffeine facilitated the detection of fra(Ⅹ) patients who had low expression of the fra (Ⅹ) chromosome. The hyperkinetic behavior in the fra(Ⅹ) syndrome and the new fragile site Xq26 were discussed.
出处
《遗传与疾病》
CSCD
北大核心
1989年第3期151-154,192+195,共4页
