title page
Contents
ABSTRACT 6
국문 요약 8
Introduction 10
Materials and methods 14
Subjects 14
Extraction of genomic DNA and PCR 15
Sequencing 16
Identification of SNPs 16
Results 18
Identification of novel variations in the PKD2 gene 18
Clinical assessment of the A190T nonsynonymous cSNP 19
The role of the A190T variation as a major cSNP 20
Implicational Association of the A190T variation with primary hypertension 21
Discussion 23
Comment 26
REFERENCES 27
Table 1. Oligonucleotide primers used to amplify the coding region of the PKD2 gene from genomic DNA. 30
Table 2. The features of the A190T polymorphism in PKD2. x² distribution and p-values were determined for the observed and expected distribution of alleles and genotypes. 32
Table 3. Association of the A190T variation with primary hypertension 33
Fig. 1. Schematic representation of PKD2 as predicted by Mochizuki et al. [7], with 30 reported missense mutations and the A190T variation.... 34
Fig. 2. Examples of ultrasound sonagraphy of kindeny. Free of ADPKD was clinically assessed in this study by using the ultrasound sonagraphic method. 35
Fig. 3. Electropherograms of the A190T polymorphism in PKD2. The genotype frequencies of GG, GA and AA in 500 Koreans were 39.8%, 48.2% and 12%, respectively. 36