Abstract:
:Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we report three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. There were strong, but not always complete, disequilibria between RFLP and serum protein alleles. Thus, the most common serum TF variant, C1, was heterogeneous and could be subdivided into two common haplotypes, whereas the C2, C3, and DCHI variants were completely or almost completely (C2) homogeneous. There was a total genotypic agreement between the BbvI polymorphism and the presence/absence of the TF C3 variant, and the mutation that creates the BhvI site was found to lead to a G258S amino acid substitution.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Beckman LE,Van Landeghem GF,Sikström C,Beckman Ldoi
10.1007/s004390050667subject
Has Abstractpub_date
1998-02-01 00:00:00pages
141-4issue
2eissn
0340-6717issn
1432-1203journal_volume
102pub_type
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