| 脆性X染色体综合征家系遗传学分析 |
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| 引用本文： | 李秀芝,卜晓波,张磊,徐晓焱,孙玉芳,杨佳宁.脆性X染色体综合征家系遗传学分析[J].牡丹江医学院学报,1988(1). |
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| 作者姓名： | 李秀芝 卜晓波 张磊 徐晓焱 孙玉芳 杨佳宁 |
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| 作者单位： | 牡丹江医学院生物教研室
(李秀芝，卜晓波，张磊，徐晓焱)，牡丹江医学院附属三院妇产科
(孙玉芳)，牡丹江医学院附属三院妇产科(杨佳宁) |
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| 摘 要： | 对一个脆性X染色体阳性家系进行了调查,用缺叶酸培养基(TC199)检查2名患者,脆性X检出率分别为13％,19％,本家系内尚有1名男性携带者,提示该家系脆性X染色体综合征不属于典型的X连锁隐性遗传。
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| 关 键 词： | 脆性X染色体 携带者 可移动遗传因子 |
A FAMILY WITH FRAGILE X SYNDROME |
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| Li Xiuzhi et al.A FAMILY WITH FRAGILE X SYNDROME[J].Journal of Mudanjiang Medical College,1988(1). |
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| Authors: | Li Xiuzhi |
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| Affiliation: | Li Xiuzhi et al |
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| Abstract: | We found a family in which 2 patients with fra(x) were identified. The fragile site of xq27 could be revealed in cultures of peripheral blood by using culture medium without folic acid.The lymphocytes of peripheral blood were cultured in TC199 medium and chromosomal G-banding technique was used. The frequencies of the fra (x) were 13%. 19% respectively,and there was a male carrier in the farnily.lt was suggested that the fra(x) syndrome in the family didn't belong to the typical x-linked recessive inheritance. |
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| Keywords: | Fra(x) Carrier |
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