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22대 대한민국 국회 국회정보길라잡이 국회의원검색
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정보검색

소장정보 검색

국회도서관 홈으로 정보검색 소장정보 검색
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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

List of Tables

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

List of Figures

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

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