Characteristics Of A Nucleotide Substitutions Essay

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are G to A nucleotide substitutions. Consequently, these nucleotide substitutions result in three amino acid substitutions; arginine to cysteine, glycine to aspartic acid, and glycine to glutamic acid, respectively . All three mutations occur within the collagen domain changing its ability to oligomerize (the mutant forms). The wild-type is termed allele “A” while the structural variants B, C and D are often gathered and referred to as zero (0) .
Despite their uneven distribution in human populations, MBL gene variants are quite frequent . The frequencies of allele “B” are 0.14 among Caucasians, 0.25 among Asians and 0.50 among indigenous South Americans. However, allele “B” is extremely rare in West Africa. On the other hand, allele “C” is rare among Caucasians but common in sub-Saharan Africa. Generally, Allele “D” is rather uncommon and to great extent is restricted to North Africans and Caucasians .
The high incidence of structural variants among populations throughout the world may confer biological advantages as individuals heterozygous for B, C, and D may be protected against some intracellular pathogens i.e. Mycobacteria species and Leishmania species .
Furthermore, studies of Madsen and his colleagues revealed two common promoter polymorphisms in the upstream promoter region. They are of importance and can affect MBL serum level. These polymorphisms are found at positions -550 (H/L variant, where L is the wild type allele) and -221 (X/Y variant, where Y is the
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