A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: Identification, mapping, and linkage to the MODY locus on chromosome 20

Abstract

A highly polymorphic (dC-dA)n[middle dot](dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. Primers flanking the dinucleotide repeat were used for PCR amplification of the repeat region in 37 informative kindreds from the Centre d'Etude du Polymorphisme Humain. Two-point linkage analysis indicates that PLC1 is closely linked to several chromosome 20 markers, including D20S16 (zmax = 41.25; [theta] = 0.07), D20S17 (zmax = 42.81; [theta] = 0.09), and ADA (zmax = 57.24; [theta] = 0.05). Multipoint linkage analysis places the PLC1 locus between D20S18 and D20S17, 11.2 and 6.6 cM, respectively, from these loci (sex-averaged distances). In addition, the PLC1 gene shows linkage to the maturity-onset diabetes of the young (MODY) locus on chromosome 20 with a lod score of 4.57 at [theta] = 0.089.