Detection of usual and atypical aldehyde dehydrogenase alleles by mismatch amplification mutation assay
文献类型：期刊论文
| 作者 | Luo HR1; Tu GC2; Zhang YP[*]1 |
| 刊名 | CLINICAL CHEMISTRY AND LABORATORY MEDICINE
 |
| 出版日期 | 2001 |
| 卷号 | 39期号:12页码:1195-1197 |
| 关键词 | Aldehyde dehydrogenase Mismatch amplification mutation assay atypical ALDH(2)(2) allele |
| ISSN号 | 1434-6621 |
| 通讯作者 | zhangyp@public.km.yn.cn |
| 英文摘要 | The genotypes of liver mitochondrial high-affinity aldehyde dehydrogenase-2 (ALDH2) are strongly associated with the drinking behavior and the alcohol liver diseases, since the individuals with atypical ALDH(2)(2) allele have higher levels of acetaldehyde in their plasma. The atypical ALDH(2)(2) allele has a nucleotide base transition (G-->A) in its exon 12. Based on this point mutation, we developed a rapid, reliable and inexpensive method, mismatch amplification mutation assay (MAMA), for the determination of human ALDH2 usual and atypical alleles. Two pairs of primers were designed for the amplification of the usual ALDH(2)(1) allele and the atypical ALDH(2)(2) allele, respectively. If the sample for the detection was heterozygous, it could be amplified by both of the primers. The product of polymerase chain reaction (PCR) of ALDH2 exon 12 could be easily screened by electrophoresis on a 2% agarose gel. The results of the MAMA method were further confirmed by sequencing. In the total of fifty samples from unrelated healthy Chinese Han people from Wuhan, China, the frequency of atypical ALDH(2)(2) allele was found to be 12%. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by National Natural Sciences Foundation of China. |
| 原文出处 | 2001391195.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/3995]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_其他 昆明动物研究所_细胞与分子进化开放实验室 |
| 作者单位 | 1.Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, the Chinese Academy of Sciences, Kunming, PR China 2.Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, USA |
| 推荐引用方式 GB/T 7714 | Luo HR,Tu GC,Zhang YP[*]. Detection of usual and atypical aldehyde dehydrogenase alleles by mismatch amplification mutation assay[J]. CLINICAL CHEMISTRY AND LABORATORY MEDICINE,2001,39(12):1195-1197. |
| APA | Luo HR,Tu GC,&Zhang YP[*].(2001).Detection of usual and atypical aldehyde dehydrogenase alleles by mismatch amplification mutation assay.CLINICAL CHEMISTRY AND LABORATORY MEDICINE,39(12),1195-1197. |
| MLA | Luo HR,et al."Detection of usual and atypical aldehyde dehydrogenase alleles by mismatch amplification mutation assay".CLINICAL CHEMISTRY AND LABORATORY MEDICINE 39.12(2001):1195-1197. |
入库方式： OAI收割
来源：昆明动物研究所
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