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由于正常女性中脆性X染色体的实际频率仍不清楚,因而在对具有频率很低的脆性X染色体的女性进行咨询时就出现许多问题.Jaobs(1980)认为无论是男性还是女性具有的脆性X染色体细胞为4.0%或更高时,才能确定为阳性标记.Herbst(1981)提议诊断脆性X携带者需要有1%以上的脆性X染色体表达.本项研究提供了关于正常女性中脆性部位Xq27的出现频率资料.利用TC199培养基(5%小牛血清)对36名无X连锁智力低下家族史的正常女性进行了外周血淋巴细胞培养,每人分析100个中期分裂相.结果在一名30岁妇女中发现
Because the actual frequency of fragile X chromosomes in normal women is still unclear, there are many problems with counseling women who have a very low frequency of fragile X. Jaabs (1980) suggests that both men and women have fragile X chromosomes Herbst (1981) proposed that more than 1% of Fragile X chromosomes be required for diagnosis of Fragile X. This study provides an overview of the presence of Xq27 in the Fragile site of normal women Frequency data Thirty-six normal women without a family history of X-linked mental retardation were subjected to peripheral blood lymphocyte culture using TC199 medium (5% fetal bovine serum), each of whom analyzed 100 metaphase. RESULTS: Found in women