[Restriction endonucleases fingerprinting-single strand conformation polymorphism: an efficient method to screen mutations in long segments].

Lufeng Ren; Yuefan Xu; Yu Yang

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PubMed · 12362320

[Restriction endonucleases fingerprinting-single strand conformation polymorphism: an efficient method to screen mutations in long segments].

Lufeng Ren·Yuefan Xu·Yu Yang

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Abstract

OBJECTIVE: To develop a simple, cheap and efficient restriction endonucleases fingerprinting-single strand conformation polymorphism(REF-SSCP) method applied to screen for mutations in long segments. METHODS: The genomic DNA of Cx26 gene segment of the patients with deafness was amplified. The amplification products were screened with SSCP and REF-SSCP technique and DNA sequencing to evaluate and compare the effect on detection of mutations in long segments. RESULTS: No different band was found in 724 bp segment in SSCP examination. Three kinds of different bands were discovered in REF-SSCP examination and the 79 G -->A mutation detected by DNA sequencing were accorded with the REF-SSCP bands entirely. The rate of detection was 100%. CONCLUSION: The present REF-SSCP method is applicable to screen mutations in long segment DNA of mass specimens.

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Connexin 26 Connexins DNA Fingerprinting DNA Restriction Enzymes Deafness Genetic Testing Humans Mutation Polymorphism, Single-Stranded Conformational Sensitivity and Specificity Journal Article Research Support, Non-U.S. Gov't

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Lufeng Ren, Yuefan Xu, Yu Yang. 2002. [Restriction endonucleases fingerprinting-single strand conformation polymorphism: an efficient method to screen mutations in long segments].. https://pubmed.ncbi.nlm.nih.gov/12362320/

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