Systematic sequence analysis of the FUT3 gene identifies 11 novel alleles in the Sindhi and Punjabi populations from Pakistan.

ABSTRACT: The FUT3 (Lewis) gene is responsible for the expression of Lewis fucosyltransferase, which is required for the synthesis of the structural determinants of both Lewis^a and Lewis^b specificity. These factors play an important role not only in clinical but also in medico-legal investigations. The gene sequence is highly polymorphic and ethnically specific. In the current study, we performed systematic sequence analysis of the coding region of FUT3 by DNA sequencing to investigate the genetic variations of FUT3 and the molecular basis of the Lewis phenotype in the Sindhi and Punjabi populations of Pakistan. Twenty-three point mutations were observed, including 7 unreported mutations, among which two missense mutations (490 G > A and 959 T > C) were predicted to be deleteri

SUBMITTER: Zhao M 

PROVIDER: S-EPMC7099025 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature