自體顯性多囊腎病的基因異常分析及其和臨床表現型的相關
Date Issued
2004
Date
2004
Author(s)
朱宗信
DOI
922314B002194
Abstract
Eighty five percent autosomal dominant polycystic kidney disease （ADPKD）patients have PKD1 gene defect；the remaining 15﹪has PKD2 gene defect. The PKD1 transcript is large, encoded by 46 exons, and embedded in a complex duplicated genomic area. The exon 1 to exon 33 of PKD1 is reiterated at least five times on the same chromosome. Recently, a new semi-automated method has been introduced for mutation analysis in human gene, denaturing high performance liquid
chromatography（DHPLC）. The purpose of this study is mutation analysis of ADPKD and its correlation to phenotype.
The methods included（1）recruit ADPKD patients and collect clinical data,（2）draw blood and extract DNA,（3）do long range PCR,（4）prepare DHPLC amplicon,（5）prepare gradient and run DHPLC ,（6）Fragment melting profile analysis and
optimization of DHPLC conditions,（7）DNA sequencing.
The results showed that 80% of 106 ADPKD patients had azotemia and the mean Cr was 3.3mg/dL. The mean age in patients entering end stage renal disease was 55 years old. For gene analysis, several steps have been finished. We will complete the work and gain entire results soon. If we find the correlation of genotype and phenotype, we may early diagnose the ADPKD patient and use some methods to delay the progression of renal failure. If we establish the genetic diagnosis of ADPKD, it maybe used in prenatal diagnosis, even gene therapy in future.
Subjects
autosomal dominant polycystic kidney disease
PKD1 gene
denaturing high performance liquid chromatography
phenotype
SDGs
Publisher
臺北市：國立臺灣大學醫學院一般醫學科
Type
journal article
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