1994
DOI: 10.1007/bf00163962
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A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein

Abstract: Human mannan-binding protein (MBP) is a serum lectin participating in the innate immune defence. Low MBP concentrations are explained by the dominant action of a point mutation at codon 54 of the MBP gene in Eskimos, partially in Caucasians, but not in Africans. A previously described point mutation at codon 57 was very frequent (0.23) in East Africans, low in Caucasians (0.02), and absent in Eskimos. The African population only conformed to Hardy-Weinberg expectation when assuming the existence of an unknown … Show more

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Cited by 460 publications
(382 citation statements)
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References 21 publications
(25 reference statements)
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“…Subsequently, a third MBL substitution was found in codon 52 (CGT to TGT) causing an arginine to be substituted with a cysteine (allele D) (Figure 4). 41 This allele had a frequency of 0.05 in both East Africans and Caucasians, but as for the C allele it was virtually absent in Asians and in Inuits and even in West Africans. The D allele also had a decreasing effect on the median MBL concentration in A/D heterozygotes, but the effect was less dramatic and the range in serum concentration was wider compared to the other two alleles.…”
Section: Historical Backgroundmentioning
confidence: 96%
See 1 more Smart Citation
“…Subsequently, a third MBL substitution was found in codon 52 (CGT to TGT) causing an arginine to be substituted with a cysteine (allele D) (Figure 4). 41 This allele had a frequency of 0.05 in both East Africans and Caucasians, but as for the C allele it was virtually absent in Asians and in Inuits and even in West Africans. The D allele also had a decreasing effect on the median MBL concentration in A/D heterozygotes, but the effect was less dramatic and the range in serum concentration was wider compared to the other two alleles.…”
Section: Historical Backgroundmentioning
confidence: 96%
“…However, the LYA haplotype could be further subdivided into additional haplotypes when a polymorphism (P/Q) located in the 5 0 -untranslated portion of exon 1 (position þ 4) is taken into consideration. 41,43 Thus, the MBL LY type consists of the following haplotypes: LYPA, LYPB, LYQA and LYQC. A difference in the serum concentration between the LYPA and LYQA haplotypes can also be observed showing that each of the identified promoter haplotypes is associated with different MBL serum levels.…”
Section: Historical Backgroundmentioning
confidence: 99%
“…A deficiency in MBL can cause a vulnerability to infection [4][5][6]. It is well known that there are three point mutations in codons 52, 54 and 57 in exon 1 of the human MBL structural gene encoding collagen-like sequences [7][8][9]. These mutations are thought to interfere with the maintenance of a stable quarternary structure and to promote degradation in the circulation [10][11][12] or to impair secretion [11,13], leading to the MBL deficiency.…”
Section: Introductionmentioning
confidence: 99%
“…[29][30][31] Plasma levels and functional activity of the collectins are known to be determined by polymorphisms in exon 1 and in the promotor region of the MBL2 gene, and thus a genetic susceptibility to the development of severe infections has been suggested as genetic variants associated with low MBL concentrations revealed a clinical phenotype. 3,[7][8][9][10] Preterm infants, known to exhibit a markedly increased risk for the development of severe infections, may critically depend on their innate immune response, as the presence of early-onset and nosocomial infections mainly determines acute and long-term morbidity and mortality in this population, especially regarding the development of neurological and pulmonary impairment. [17][18][19] Especially, the development of chronic lung disease in preterm infants is known to be triggered by infectious complications and ongoing inflammatory processes.…”
Section: Discussionmentioning
confidence: 99%
“…7 Numerous disease association studies suggested an important role for MBL in relation to the acquisition or the clinical course of infectious diseases in children and adults. 3,[7][8][9][10] Especially in immunocompromised individuals, MBL deficiency appears to exert effects on susceptibility and severity of infectious diseases. [11][12][13][14][15][16] Because their adaptive immunity has not yet been developed, MBL is particularly important in neonates in whom immune defense depends on maternal antibodies and innate defense mechanisms.…”
Section: Introductionmentioning
confidence: 99%