| 3’HVR与24-1探针在成人型多囊肾病基因诊断中的应用 |
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| 引用本文： | 王雪花,刘国仰,叶国龄,刘琪,郑转梅,蔡小宁.3’HVR与24-1探针在成人型多囊肾病基因诊断中的应用[J].西安交通大学学报(医学版),1997(3). |
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| 作者姓名： | 王雪花 刘国仰 叶国龄 刘琪 郑转梅 蔡小宁 |
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| 作者单位： | 第二临床医学院妇产科!西安710004(王雪花，叶国龄，刘琪，郑转梅，蔡小宁)，中国医学科学院基础医学研究所医学遗传室(刘国仰) |
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| 基金项目： | 卫生部八五攻关课题!（85－918－06－04） |
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| 摘 要： | 应用PKD1两侧探针（3HVR和24-1），采用Southern印迹杂交方法，通过RFLP连锁分析，对7个成人型多囊肾病家系共41个成员进行了基因单体型分析。16个APKD患者的RFLP单体型被证明与PKD1基因相连锁，发现2个重组体，并检测出6个症状前个体。结果证明，APKD家系成员的PKD1基因与3HVR之间存在着紧密连锁关系，进一步肯定了3’MVR探针同样可用于我国成人型多囊肾病患者的症状前基因诊断和产前基因诊断。
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| 关 键 词： | 成人型多囊肾病 连锁分析 基因诊断 |
THE GENE DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE USING PROBES 24-1 AND 3'HVR |
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| Wang Xuehua, Liu Guoyang, Ye Gouling et al.THE GENE DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE USING PROBES 24-1 AND 3'HVR[J].Journal of Xi‘an Jiaotong University:Medical Sciences,1997(3). |
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| Authors: | Wang Xuehua Liu Guoyang Ye Gouling |
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| Abstract: | The probes 24-1 on the centromeric side and 3HVR on the telmomeric side were used to determine the RFLP haplotypes of forty-one mem-bers of 7 APKD families. Sixteen individuals in these 7 families were found to be affected. The RFLP haplotypes linked to the PKD1 gene in each group.family was determined. Two recombinants were de-tected. Six presymptomatic individuals were identi-fied. The result showed a close linkage between 3HVR and PKD1. The α-globin gene 3'HVR probe can therefore be used for presymptomatic gene diag-nosis and prenatal diagnosis in the Han ethnic group. |
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| Keywords: | adult polycystic kidney disease linkage analysis gene diagnosis |
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