Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.

摘要: Polymorphisms of the mannose-binding lectin gene (MBL2) affect concentration and functional efficiency protein. We recently used haplotype-specific sequencing to identify 23 MBL2 haplotypes, associated with enhanced susceptibility several diseases. In this work, we applied same method in 288 470 chromosomes from Gabonese European adults, respectively, found three new haplotypes last group. propose a phylogenetic nomenclature standardize studies two major branches due six strongly linked polymorphisms high MBL production. They presented Fst values were imbedded regions nucleotide diversity significant Tajima's D values. Compared others using small sample sizes unphased genotypic data, differences haplotyping, frequency estimation, Fu Li's D* results. Using extensive testing for selective neutrality, confirmed that stochastic evolutionary factors have had role shaping polymorphic worldwide.