Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia.

Abstract

By using c[complementary]DNA probes for the human albumin gene, 4 restriction enzyme fragment length polymorphisms (RFLP) were discovered that were transmitted by codominant autosomal inheritance. Among Caucasians, the gene frequencies were 0.04/0.96 for Msp I/5'', 0.43/0.57 for Hae III/3'', 0.44/0.56 for Hae III/5'', and 0.04/0.42/0.54 for Pst I/5''. These common variants provide a marker for chromosome 4 (q11-q13). A calculation of the extent of DNA variation at the albumin locus revealed that 1/95 nucleotide sites was affected by a RFLP, a figure similar to that found in the globin system. Restriction enzyme fragment study of the DNA of a human analbuminemic individual revealed no gross structural rearrangements of the albumin locus. The exact nature of the abnormality will require more study.