| 中国人FRAXAC2多态性及在连锁分析中的应用 |
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| 引用本文： | 柴精华 沈岩. 中国人FRAXAC2多态性及在连锁分析中的应用[J]. 中华医学遗传学杂志, 1995, 12(3): 146-149 |
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| 作者姓名： | 柴精华 沈岩 |
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| 作者单位： | 中国医学科学院基础医学研究所、医学分子生物学国家重点实验室，北京协和医院儿科，北京协和医院儿科 |
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| 基金项目： | 国家自然科学基金,美国中华医学基金 |
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| 摘 要： | 应用聚合酶链反应扩增脆性Ｘ智力低下基因５＇侧的二核苷酸重复序列，通过聚丙烯酰胺凝胶电沪及放射自显影的方法检测扩增产物。结果表明：ＦＲＡＸＡＣ２重复序列在我们所检测的中国人群中共有７种等位片段，其频率分布为０．００４８－０．６０６３。
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| 关 键 词： | 脆性X综合征 二核苷酸 重复序列 FRLP 连锁分析 |
POLYMORPHISM OF THE FRAX AC_2 LOCUS IN A CHINESE POPULATION AND ITS APPLICATION IN GENETIC LINKAGE ANALYSIS IN FAMILIES WITH FRAGILE X SYNDROME |
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| Chai Jinghua ,Shen Yan,Zhao Shimin,et al.. POLYMORPHISM OF THE FRAX AC_2 LOCUS IN A CHINESE POPULATION AND ITS APPLICATION IN GENETIC LINKAGE ANALYSIS IN FAMILIES WITH FRAGILE X SYNDROME[J]. Chinese journal of medical genetics, 1995, 12(3): 146-149 |
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| Authors: | Chai Jinghua Shen Yan Zhao Shimin et al. |
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| Abstract: | Microsatellite AC repeats in human genome are usually highly informative and can be used in determination of genotype in families by PCR analysis.We determined the polymorphisms of AC dinucleotide repeat at the 5'upstream of FMR-1 gene(FRAXAC2)in a Chinese population.Seven alleles with a PIC of 0.58 were found at the locus.By using the haplotype of the microsatellite,four families with fragile X syndrome were analysed.It is suggested that the method can be applied in the diagnosis of genotype of Fra(X) and the analysis of inheritance relationship. |
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| Keywords: | Fragile X syndrome Fragile X AC_2 repeat Polymorphism(Genetics) Linkage analysis |
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