Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE

被引：6
作者：
Peters, DJM
Ariyurek, Y
van Dijk, M
Breuning, MH
机构：
[1] Leiden Univ, Med Ctr, Dept Human & Clin Genet, NL-2333 AL Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Nephrol, Leiden, Netherlands
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2001年 / 9卷 / 12期
关键词：
polycystic kidney disease; ADPKD; PKD1; DGGE;
D O I：
10.1038/sj.ejhg.5200756
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
The PKD1-gene encodes a 14 kb transcript spanning a 50 kb genomic interval. Two-thirds of the gene is reiterated at another locus on the same chromosome. Using Long Range PCR with primers in intron I and exon 11, 6.8 kb PKD1 specific fragments were generated on genomic DNA. These products were used as templates for nested PCR's to screen exons 2-10 by Denaturing Gradient Gel Electrophoresis (DGGE). Upon analysis of 36 patients, a total of I I different sequence variants were observed: A nonsense mutation in exon 2, a frameshift mutation in exon 8 and furthermore, two amino acid changes, two silent polymorphisms and five intronic variants.
引用
收藏
页码：957 / 960
页数：4
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