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Analysis of Common CFTR Polymorphisms Poly-T, TG-repeats and M470V in a Healthy Chinese Population of Jiangsu Province

Author: HuangQin
Tutor: WeiMuXin
School: Nanjing Medical University
Course: Chinese medical science
Keywords: TCM phlegm syndrome Cystic fibrosis transmembrane conductance regulator Gene polymorphism Poly-T TG-repeats M470V
CLC: R394
Type: Master's thesis
Year: 2008
Downloads: 33
Quote: 0
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Abstract


Objective: three healthy population CFTR gene study in Jiangsu Province, China haploid TG-repeats, Poly-T and M470V polymorphic phenomenon circumstances, with a crowd of other countries in Asia and the Caucasus crowd contrast, the background research for the TCM Phegm gene lay the foundation. Methods: Blood DNA extraction reagent cartridge from blood leukocyte extract the genomic DNA, PCR technique blood sample gene group DNA carried purpose of gene fragments amplified outer significant sub 9 purpose fragment by DNA sequencing, the DNA sequence directly Analysis Poly-T-TG haploid polymorphisms situation-repeats, purified outer exon 10 amplified fragment Hph Ⅰ restriction enzyme digestion, the the M470V genotype and allele type determined by agarose gel electrophoresis analysis. Results: China Jiangsu healthy people in the CFTR gene IVS-8 Poly-T haploid mainly T7 (93.56%), TG-repeats haploid the TG11 (57.20%) and TG12 (40.91%),, T5 a frequency of 3.8% and all T5 and TG12 connected to the study in three healthy people found the four new alleles T6. Exon 10 on the V470 allele frequency (56.06%) is higher than the M470 allele frequency (43.94%), three genotypes, the genotype of the MV genotype (45.45%), followed VV genotype 33.33 21.21%%, MM genotype. T7-(TG) 11-V470 in the study population, T7-(TG) 12-M470 and T7-TG11-M470, the most important of the three haploid genotype approximately all of the haploid genotype 86.0 %. Conclusion: China Jiangsu healthy people in the CFTR gene, Poly-T, TG-repeats and M470V haploid distribution pattern similar to other Asian countries crowd, whether it is a single or joint haploid haploid genotype with Caucasians There are obviously different. Common mutations in the CFTR gene, T5, the population distribution of the frequency of Jiangsu Province in China and other Asian countries are lower than the Caucasian population, in Jiangsu Province in China and some other Asian countries such as Japan, Vietnam, T7-(TG) 11-V470 andT7-(TG) 12-M470 for two haploid main joint genotype haploid joint genotype in the Caucasian population, however T7-(TG) 11-V470 and T7-(TG) 10-M470. One of the reasons for these differences may be used as the interpretation of China and the other Asian countries crowd CF class CF disease incidence is lower than Western populations. 2 of this topic for the first time analyzed 132 cases of healthy people in Jiangsu Province, China CFTR gene are three common important haploid poly-T and TG-repeats polymorphism, China's Jiangsu Province CFTR gene and its related diseases important information on the genetics of normal healthy control group CFTR gene polymorphism and TCM phlegm syndrome research and experimental methodological basis for further research to lay.

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