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Genetic polymorphism in the 3‘ ntranslated region of human phosphoglucomutase‐1
Author(s) -
March R. E.,
Hollyoake M.,
Putt W.,
Hopkinson D. A.,
Edwards Y. H.,
Whitehouse D. B.
Publication year - 1993
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1993.tb00881.x
Subject(s) - biology , genetics , phosphoglucomutase , single strand conformation polymorphism , coding region , isozyme , gene , allele , phenotype , microbiology and biotechnology , polymerase chain reaction , enzyme , biochemistry
Summary A 317‐bp segment of DNA from the 3′ region of the human phosphoglucomutase‐1 (PGMl) gene has been examined by a non‐radioactive technique for the occurrence of single‐strand conformation polymorphism (SSCP), Eight phenotypes were detected and attributed to the presence of four alleles. Genetic analysis of 75 unrelated individuals and six CEPH families whose PGMl protein phenotypes were known revealed strong association between the PGMl ‘+’ and ‘−’ isozyme phenotypes and the variation detected in this region, but no association with the PGMl 1 and PGMl 2 isozyme phenotypes. DNA sequence analysis demonstrated the presence of three nucleotide substitutions underlying the alleles, which were located in the untranslated region of the PGMl gene. There was complete correlation between the nucleotide sequence and the phenotype detected by SSCP analysis. This study provides support for the model that the PGMl isozyme polymorphism is determined at two distinct sites in the coding sequence, one coding for the ‘1’ and ‘2’ alleles and the other coding for the ‘+’ and ‘−’ alleles, separated by a region where intragenic recombination occurs.