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DNA Polymorphism of Human HLA-Linked Complement C4 Allotypes, Including C4 Null Alleles, in the Finnish Population

 

作者: Jukka Partanen,   Leena Peltonen,   Saija Koskïmies,   Michael C. Carroll,  

 

期刊: Human Heredity  (Karger Available online 1987)
卷期: Volume 37, issue 4  

页码: 241-249

 

ISSN:0001-5652

 

年代: 1987

 

DOI:10.1159/000153711

 

出版商: S. Karger AG

 

关键词: ComplementRFLP;Deficiency

 

数据来源: Karger

 

摘要:

Human HLA-linked complement C4 gene products, C4A and C4B, show extensive genetic polymorphism. In both loci, an allele without a gene product, C4 null, is also observed. We have performed a restriction enzyme analysis of genomic DNA samples from individuals having all common (frequency over 1 %) C4 protein allotypes observed in the Finnish population. Only one allotype-specific RFLP marker was observed. With some enzymes a DNA polymorphism was observed, which was not detectable by C4 protein typing. Analysis of 10 different C4B null haplotypes and 4 C4A null haplotypes suggested that only one haplotype, HLA-B8 C4A0 B1, carried a C4A gene deletion. This was observed in all 4 unrelated individuals homozygous for this haplotype.

 

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