| 8例异染性脑白质营养不良患者ARSA基因突变分析 |
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| 引用本文： | 张贵臣,姜玉武,王静敏,岳凤,吴希如.8例异染性脑白质营养不良患者ARSA基因突变分析[J].山西医科大学学报,2008,39(8). |
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| 作者姓名： | 张贵臣 姜玉武 王静敏 岳凤 吴希如 |
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| 作者单位： | 1. 北京大学第一医院儿科,北京,100034
2. 兰州大学 |
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| 基金项目： | 国家科技计划基金子课题 |
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| 摘 要： | 目的 分析并确定8例异染性脑白质营养不良(metaehrcxnatie leukodystrophy,MLD)患者的芳基硫酸酯酶A(arylsttlf-tase A,ARSA)基因突变及遗传特征.方法 收集并分析8例MLD患者及其家系成员临床资料,采用DNA直接测序方法进行ARSA突变检测,确定基因突变位点,明确基因诊断.结果 例1-3发现ARSA基因纯合突变c.954G>A;例4复合杂合突变C.887G>T/c.911C>T;例5复合杂合突变C.862C>T/c.1338dupC;例6仅发现1种突变C.179180dupCA;例7与例8复合杂合突变c.251G>A/c.296G>T.结论 明确了8例MLD患者的基因诊断,并发现4个国际上未见报道的AR-SA基新突变.
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| 关 键 词： | 异染性脑白质营养不良 芳基硫酸酯酶A 突变 |
Arylsulftase A gene mutations in 8 patients with metachromatic leukodystrophy |
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| ZHANG Gui-chen,JIANG Yu-wu,WANG Jing-min,YUE Feng-zhen,WU Xi-ru.Arylsulftase A gene mutations in 8 patients with metachromatic leukodystrophy[J].Journal of Shanxi Medical University,2008,39(8). |
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| Authors: | ZHANG Gui-chen JIANG Yu-wu WANG Jing-min YUE Feng-zhen WU Xi-ru |
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| Institution: | 1Dept of Pediatrics;First Hospital;Peking University;Beijing 100034;China;2Lanzhou University |
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| Abstract: | Objective To identify arylsulftase A(ARSA)gene mutations in 8 patients with metachromatic leukodystrophy(MLD). Methods Genomic DNA samples were extracted from peripheral bloods of the patients and all their family members.All 8 exons and exon-intron boundaries of ARSA gene were amplified by polymerase chain reaction(PCR)and followed by direct DNA sequencing. Results There was one homozygous mutation c.954G>A in patients 1-3.The compound heterozygous mutations c.887G>T/c.911C>T and c.862C>T/c.1338dupC were f... |
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