Research of genetic polymorphism of 5-HTT in childhood autism / 西安交通大学学报·英文版

ABSTRACT

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: Circled digit one 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. Circled digit two 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. Circled digit three The distribution of homozygous and heterozygous subjects between the two groups differed significantly. Circled digit four The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor. Circled digit five 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: Circled digit one A significant difference in the allele frequency between the Han Chinese and Caucasian populations was found. Circled digit two The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor of the patients. Circled digit three 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.