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Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene.

作者信息

Jack D, Bidwell J, Turner M, Wood N

机构信息

Immunobiology Unit, University of London, United Kingdom.

出版信息

Hum Mutat. 1997;9(1):41-6. doi: 10.1002/(SICI)1098-1004(1997)9:1<41::AID-HUMU7>3.0.CO;2-S.

Abstract

We describe a rapid and simple method for genotyping the three known structural mutations within exon 1 of the mannan-binding lectin (MBL) gene. A PCR-amplifiable synthetic DNA (Universal Heteroduplex Generator) was annealed to genomic PCR product from exon 1 to generate unique DNA heteroduplexes for each mutation. Heteroduplexes were then resolved by non-denaturing polyacrylamide gel electrophoresis. The technique was initially validated with previously typed samples and then applied to previously untyped samples with the results confirmed by DNA sequencing.

摘要

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