Analysis of ApoE genotypic polymorphism in Alzheimer disease

Analysis of ApoE genotypic polymorphism in Alzheimer disease

Poster Abstracts / Journal of Neuroimmunology 90 (1998) 13-105 599 DNAAnalysis of HLA Class II Alleles in Bulgarian Patients with MultipleSderosis L...

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Poster Abstracts / Journal of Neuroimmunology 90 (1998) 13-105

599 DNAAnalysis of HLA Class II Alleles in Bulgarian Patients

with MultipleSderosis L. Trendafilova, Medical lnstia~te, Bulgaria, E. Nauru ova, Med. Univ., Bulgaria, M. Manova, Med. Inst., Bulgaria, M. ][vanova, Med. Univ., Bulgaria

Multiple sclerosis (MS) is an inflammatory and demyelinating disease of the central nervous system in which genetic factors play a primary role. Increased frequencies of serologically defined HLA-B7, B12, DR2 and DQwl specificities have previously been found in Bulgarian patients with MS. In the present study we report the first DNA analysis of HLA class 11 alleles in Bulgarian MS patients. 26 patients, all of them with relapsing-remitting disease, were tested. The HLA class 11 (DRBI, DQBI, DQAI) polymoqthisms were defined by PCR-SSO and PCR-SSP methods. The frequencies of alleles in the petieats' group were compared with these of 130 control subjects. Our results showed significantly increased frequencies of DRBI*I501 ([3.5% vs 5,4%) and DQBI*06O2 (13,5% vs 5%) alleles in patients compared to the controls, which confirms the known association with MS in Caucasian population. We also fotmd significantly increased frequencies of DRBI* 1303 (5,8% vs 0,4%), DRBI* 1001 (5,8% vs 0,8%) and DQAI*0104 (7,7% vs 0,4%) alleles in Bulgarian MS patients. Non of our patients carried DRBI*II01 (0% vs 15%) and this allele seems to be a protective one for our population. Less strong protective MS association was observed for DRBI*I301 (1,9% vs 9,9%) and DQBI*0301 (13,5% vs 28,1%). These date demonstrate an association of HLA class II alleles with MS in Bulgarian patients and partially confirm the literature date.

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AnalysisofApoE GenotypiePolymorphisminAIzheimerDisease Y. Feng, X. Xu. C. Ji, H. Jin, P. Me, B. Li, D. Peng, S. Wen, H. Guo, H. Wang, X. Wang, X. Zhan, G. Liu, BeijingHo~pital, P.R. China

Background: Alzheimer's disease (AD) is characterized neuropathologically by the accumulation of neurofibrillatory tangles (NFT) as well as by the cerebrovaseular amyloid deposition and neuronal cell loss. In the recent few years there are considerable advances in understanding the pathogenesis of AD through genetic studies. The association of AD with the apolipoprotein E (ApeE) c 4 allele has been observed in various samples of white. Japanese, and Hispanics. Here we studied the relationship in Chinese. Material and Methods: Blood samples of 40 AD and 36 age-matched controls (average age 72.65±9.23 years, 71.52±8.36 years respectively) in Beijing of China were collected. DNA from AD patients and controls was extracted from peripheral blood monocytas with the phenol-chloreform procedure. APOE genotypes were investigated with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results: The frequency of ApoE ~ 2, E 3, E 4 was 0.060. 0.702, 0.238 respectively in AD and was 0.102, 0.840. 0.056 respectively in controls of Beijing area. The frequency of e4 was significantly higher in AD than that in control. Conclusion: The results indicated that AD and ApoE c 4 were closely correlated. It is reasonable to infer that person with ApoE ~ 4 is susceptible to AD.

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