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5-HTTLPR多态性基因型与儿童孤独症临床特征的相关分析 被引量:4
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作者 孙晓勉 李雅妹 郑崇勋 《中国全科医学》 CAS CSCD 2004年第23期1734-1735,共2页
目的 探讨 5 -HTTLPR多态性基因型与儿童孤独症临床特征的相关性。方法 对已确诊的 2 5例儿童孤独症 (CA) 5 -羟色胺转运体 (5 -HTT)基因的启动子区 5 -HTT基因连锁多态性区域 (5 -HTTLPR)多态性进行扩增。结果  5 -HTTLPR多态性的... 目的 探讨 5 -HTTLPR多态性基因型与儿童孤独症临床特征的相关性。方法 对已确诊的 2 5例儿童孤独症 (CA) 5 -羟色胺转运体 (5 -HTT)基因的启动子区 5 -HTT基因连锁多态性区域 (5 -HTTLPR)多态性进行扩增。结果  5 -HTTLPR多态性的基因型与CA的躯体运动因子 (B)有显著相关性 (r =0 4 5 3,P =0 0 2 6 )。结论  5 -HTTL PR多态性的基因型与CA的躯体运动因子 (B)存在显著相关性 ,与使用SSRIs类药物治疗CA的相应症状疗效良好的事实相符 ,本研究结果为临床药物控制CA症状提供了初步的理论依据。 展开更多
关键词 5-HT 儿童孤独症 多态性 CA 临床特征 躯体运动 相关性 结论 理论依据 动因
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RESEARCH OF GENETIC POLYMORPHISM OF 5-HTT IN CHILDHOOD AUTISM
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作者 孙晓勉 李雅妹 郑崇勋 《Journal of Pharmaceutical Analysis》 SCIE CAS 2006年第2期195-198,共4页
Objective To reveal the relationship between the 5-HTTLPR and the Chinese Han nationality children with CA, compared the distribution of the 5-HTTLPR between the Han Chinese children with CA and healthy Han Chinese ch... Objective To reveal the relationship between the 5-HTTLPR and the Chinese Han nationality children with CA, compared the distribution of the 5-HTTLPR between the Han Chinese children with CA and healthy Han Chinese children ,and analyzed the association between the 5-HTTLPR and clinical symptoms of the Han Chinese children with CA. Methods Genomic DNAs of fifty subjects including 25 autistic children and 25 controls were extracted from blood samples. PCR amplification using Oligonucleotide primers flanking 5-HTTLPR was performed. Results ① Three kinds of alleles including the S (short) allele, the L (long) allele and the VL allele were found , and the 5-HTTLPR genotypes shown were S/S, L/L, S/L and L/VL. ② Allele frequencies did not differ significantly in patient groups in comparison with the control sample. No significant difference was identified between the observed 5-HTTLPR genotype distribution of the patient groups and control group. ③ The distribution of homozygous and heterozygous subjects between the two groups differed significantly. ④ The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor. ⑤ The allele frequency of healthy Han Chinese population and that of healthy Japanese population were similar. The frequency of S allele in not only autistic subjects but also healthy children in this study was considerably more than that in Caucasians and the frequency of L allele in our subjects decreased correspondingly. Conclusion ① A significant difference in the allele frequency between the Han Chinese and Caucasian populations was found. ② The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor of the patients. ③ The homozygote and the L allele were positively relevant to CA and they might be the risk factors of CA. The heterozygote and the S allele were negatively relevant to CA and they might be the protective factors of CA. 展开更多
关键词 genetic polymorphism 5-httlpr childhood autism
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