Primer group and kit for amplifying PKD1 gene

Abstract

The invention relates to the field of genetic disease gene detection, in particular to a PCR primer group for amplifying a PKD1 gene. The PCR primer group comprises one or more pairs in a first primerpair, a second primer pair, a third primer pair and a fourth primer pair. According to the primer group disclosed by the invention, the length of an amplicon covering an exon No.1 is increased, stable amplification of an exon No.1 region is successfully realized, and an amplification product covers all exon regions and most of intron regions of PKD1; a PKD1 gene sequence is specifically obtained,and a pseudogene sequence of PKD1 cannot be completely amplified; and under the condition that pseudogene interference is completely eliminated, the variation of the PKD1 gene, including known variation and unknown variation, can be detected more accurately.

Description

technical field [0001] The invention relates to the field of genetic disease gene detection, in particular to a primer set and a kit for amplifying PKD1 gene. Background technique [0002] Polycystic kidney (polycystic kidney), also known as Potter (I) syndrome, Perlmann syndrome, congenital renal cystic neoplastic disease, cystic kidney, bilateral renal hypoplasia syndrome, etc., is a relatively common genetic disease. The main manifestations are asymmetry in the progress of renal lesions on both sides, with differences in size. In the late stage, the two kidneys can occupy the entire abdominal cavity, and there are many cysts on the surface of the kidneys, making the kidneys irregular and uneven, eventually leading to end-stage renal disease. Polycystic kidney disease can be divided into autosomal dominant (adult type) polycystic kidney disease (autosomal dominant polycystic kidney disease, ADPKD) and autosomal recessive (infantile) polycystic kidney disease (autosomal rec...

AI Technical Summary

Problems solved by technology

For example, PKD1 has 46 exons. Amplifying each exon of PKD1 separately and then performing next-generation sequencing requires a high workload and cost, and it is difficult to specifically amplify the PKD1 true gene. The accuracy of the results It will be interfered by the pseudogene sequence; although there is no need to amplify each exon separately in some articles, there are too many primer sets to be used in the process of amplifying the PKD1 gene, the method is too cumbersome, and the detection efficiency is low

Or use nested PCR to enrich the PKD1 true gene. Usually, a few long-segment PCRs are used to amplify the PKD1 gene, and then the long-segment PCR product is used as a template to enrich the PKD1 true gene. The operation is relatively complicated; or use the next-generation sequencing method to detect PKD1, it is difficult to specifically capture the PKD1 true gene, and the second-generation sequencing read length is short, the high homology of true and false genes makes the data can not be compared specifically; or use the third-generation sequencing method to detect PKD1, the cost is relatively high

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