Opening book details…
Can I read Genetic variant characterization in intron 4 of the surfactant protein B gene on EtoBox?
Genetic variant characterization in intron 4 of the surfactant protein B gene by Aaron Hamvas; Daniel J. Wegner; Michelle A. Trusgnich; Katherine Madden; Hillary Heins; Ying Liu; Treva Rice; Ping An; Julie Watkins-Torry; F. Sessions Cole is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Genetic variant characterization in intron 4 of the surfactant protein B gene about?
Genetic variants in intron 4 of the surfactant protein B gene SFTPB have been associated with pulmonary morbidity in newborn infants and adults. Genetic variant discovery in intron 4 requires high fidelity polymerase amplification due to a variable number of intermotif dinucleotide repeats and reliable characterization of alleles genetically distinct due to insertion, deletion, or both of 11 conserved sequence motifs. To optimize genetic variant discovery, we selected a high fidelity polymerase enzyme by replicate amplification and compared automated sequencing with agarose gel electrophoresis for all variant alleles (N=68) in a cohort of Missouri infants with (N=187) and without (N=53) respiratory distress. We identified and characterized six new alleles based on sequence motifs and two pairs of variant alleles with similar mobilities by agarose gel electrophoresis but distinct motif sequences. We confirmed uniformity of invariant alleles by sequencing (N=77). Logistic regression using race and intron 4 genotype for infants > or = 35 weeks gestation suggested that the invariant allele was independently associated with increased risk of respiratory distress (OR for the invariant al
Who reads Genetic variant characterization in intron 4 of the surfactant protein B gene?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Aaron Hamvas; Daniel J. Wegner; Michelle A. Trusgnich; Katherine Madden; Hillary Heins; Ying Liu; Treva Rice; Ping An; Julie Watkins-Torry; F. Sessions Cole
- Publisher
- Hindawi Limited
- Published
- 2005
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)