STEUER, MK and OUDSHOORN, M and BRENDEN, M and FIMMERS, R and NEUGEBAUER, M and DUTOIT, E and BAUR, MP and MAUFF, G (1994) AN ESTIMATE ON THE FREQUENCY OF DUPLICATED HAPLOTYPES AND SILENT ALLELES OF HUMAN C4 PROTEIN POLYMORPHISM .2. INVESTIGATIONS IN HEALTHY NEGRO FAMILIES. TISSUE ANTIGENS, 43 (2). pp. 88-94. ISSN 0001-2815,
Full text not available from this repository.Abstract
The first investigation of complete MHC marker data in South African Negroes by segregation analysis in 11 families with up to three generations is presented, including quantitative evaluation of C4 allotype patterns and C4 beta chain determinations according to Steuer et al. (1). The frequency of homo- and heteroduplicated, hybrid, and non-expressed C4 alleles was determined from C4 protein phenotyping, including C4 alpha and beta chains, quantitative estimates of the relative electrophoretic C4 banding patterns by scanning densitometry, and from the other classical MHC markers by submitting all results to the family analysis program (FAP). From unrelated non-diseased individuals (n = 105) in these families with 62 haplotypes, the following frequencies were observed for non-expressed alleles: C4A*Q0 0.1189, C4B*Q0 0.2552, and for the total of heteroduplicated alleles: C4A 0.0645, C4B 0.0608. Applying additionally quantitative determinations of C4 banding patterns, homoduplications such as C4A*3 A*3, C4B*1 B*1, C4B*3 B*3, and the heteroduplication C4A*3 A*2 were assumed. In the investigated individuals the heteroduplications of C4A*12 and C4A*3 with the A*91 allele and of C4B*2 with C4B*92 were observed. It was concluded that not only allele frequencies but also the frequency of heteroduplications seems to be of specific ethnic character. Furthermore, the prior hypothesis that deletion or non-expression at one C4 locus is accompanied by duplication at the other was only confirmed for non-expressed B-alleles with C4A*3 A*91 or C4A*12 A*91. For the correlation of C4 genes with other class III markers no linkage disequilibria with p-values less than 0.001 as in Caucasoid populations were seen. The presented data may form a basis for further investigations in African Negroes on characteristic MHC haplotypes in defined diseases.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | REFERENCE TYPING REPORT; HUMAN-COMPLEMENT COMPONENT-C4; SYSTEMIC LUPUS-ERYTHEMATOSUS; BLACK-AMERICANS; NOMENCLATURE STATEMENT; ANCESTRAL HAPLOTYPES; GEL-ELECTROPHORESIS; MOLECULAR-BASIS; MHC HAPLOTYPES; FACTOR-B; CLASS III MHC-MARKERS; DUPLICATED C4 HAPLOTYPES; SOUTH AFRICAN NEGRO FAMILIES; SEGREGATION ANALYSES |
| Depositing User: | Dr. Gernot Deinzer |
| Last Modified: | 19 Oct 2022 08:41 |
| URI: | https://pred.uni-regensburg.de/id/eprint/53500 |
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