Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P02774 (Gc-globulin)
 196 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The distribution of the HP and GC serum protein polymorphisms in the !Kung San and Kavango (Bantu) populations in Namibia were examined. The obtained allele frequencies of GC marker system were very similar in both populations (GC*1F approximately equal to 0.80, GC*2 approximately equal to 0.10), while the distributions of the HP subtypes in the !Kung San sample (HP*1F = 0.0967, HP*1S = -.1452, HP*2FS = 0.7581) differed markedly from those in the Kavango one (HP*1F = 0.3791, HP*1S = 0.2375, HP*2S = 0.375). These results confirm previously reported allelic distributions in ethnically similar populations.
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PMID:HP and GC subtype distribution in the !Kung San and Kavango in Namibia. 766 42

The structure and organization of the human vitamin-D-binding protein gene (DBP, group-specific component, GC) have recently been determined. Each exon may now be amplified by the PCR method using oligonucleotide primers deduced from the intron sequences near their 5' ends and 3' ends. In this study we examined the anodal GC variants 1A1 and 2A9. Genomic DNA of the variant 1A1 was obtained from Australian Aborigines and from South African Bantu-speaking Blacks. Amplification and sequencing of exon 11 of 1A1 revealed a point mutation in codon 429 at the second position. It is remarkable that this mutation was found in the Australian 1A1 variant and in the African 1A1 variant, and raises the question whether the mutation in these two ethnic groups has a common origin. Genomic DNA of the 2A variant called 2A9 was obtained from South Germany and a point mutation also concerning position 429 in exon 11 was found. The nucleotide exchange in this case, however, was at the first position of the codon. The widely distributed genetic polymorphism of DBP/GC is located in exon 11 and is characterized by substitution at amino acid positions 416 and 420. Variant 1A1 is due to a second site mutation of the allele GC*1F; variant 2A9 is due to a mutation in the GC*2 allele.
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PMID:Characterization of mutants of the vitamin-D-binding protein/group specific component: GC aborigine (1A1) from Australian aborigines and South African blacks, and 2A9 from south Germany. 772 72