[Expression variation and mutation analysis of exon 9 and 10 in amyloid precursor protein gene in Alzheimer's disease].

To explore the expression differences of exon 9 and 10 in Amyloid Precursor Protein gene(APP9～10) in Alzheimer′s disease,and detect the probable point mutation appeared in cDNA fragment of APP9～10 in the Shanghai Han people.semiquantitaive competitive RTPCR technique was performed to detect the expression of APP9～10 in peripheral lymphocyte,and the Apolipoprotein E gene(ApoE) and Presenilin 1(PS1)gene were genotyped with PCRRFLP method.We also analyzed the point mutation in APP9～10 cDNA through the denatured gel eletrophoresis.The results are as follows:1.While compared with healthy controls,expression of APP9～10 mRNA was significantly enhanced in Alzheimer disease;2.APOE*e4 allele,the most common genetic risk factor for AD,did not affect the Expression of APP9～10 mRNA,whereas the APP9～10 mRNA expression might be increased by the allele 1 of PS1 gene,another probable susceptibility gene of AD.3.No point mutation in APP9～10 cDNA was detected.In our samples,the expression of APP9～10 mRNA in AD was significantly different from that of controls,suggesting that the change of peripheral APP9～10 mRNA expression might be another biomarker used in clinical diagonosis for AD.