| | |  | | | | Record from Web of Science® | | | | | | |
| A NEW FREQUENT ALLELE IS THE MISSING LINK IN THE STRUCTURAL POLYMORPHISM OF THE HUMAN MANNAN-BINDING PROTEIN |
|
|
| Author(s): MADSEN HO, GARRED P, KURTZHALS JAL, LAMM LU, RYDER LP, THIEL S, SVEJGAARD A |
| Source: IMMUNOGENETICS Volume: 40 Issue: 1 Pages: 37-44 Published: MAY 1994 |
| Times Cited: 314 References: 22 |
| 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 allele, which was subsequently found as a point mutation at codon 52. This allele appeared with a relatively high frequency (0.05) in both Africans and Caucasians, but was absent in Eskimos. Hardy-Weinberg equilibrium is now seen in the investigated ethnic groups. All cases of MBP deficiency may be explained by these three variants. |
| Document Type: Article |
| Language: English |
| Reprint Address: MADSEN, HO (reprint author), RIGSHOSP, DEPT CLIN IMMUNOL, TISSUE TYPING LAB, TAGENSVEJ 20, DK-2200 COPENHAGEN N, DENMARK |
Addresses:
1. UNIV COPENHAGEN, RIGSHOSP, DEPT INFECT DIS, CTR MED PARASITOL, DK-2200 COPENHAGEN N, DENMARK
2. UNIV AARHUS, SKEJBY HOSP, DEPT CLIN IMMUNOL, DK-8200 AARHUS N, DENMARK
3. AARHUS UNIV, INST MED MICROBIOL, DK-8000 AARHUS C, DENMARK |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Genetics & Heredity; Immunology |
| IDS Number: NN362 |
| ISSN: 0093-7711 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |