Mapping studies of the serum cholinesterase-2 locus (CHE2) |
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| Authors: | Mary L Marazita Bronya J B Keats M Anne Spence Robert S Sparkes L Leigh Field Maryellen C Sparkes Michol Crist |
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| Institution: | (1) Department of Human Genetics, Medical College of Virgina, MCV Station, Box 33, 23298-0033 Richmond, VA, USA;(2) Department of Biometry and Genetics, Louisiana State University Medical Center, 70112 New Orleans, LA, USA;(3) Department of Psychiatry and Department of Biochemistry, University of California, 90024 Los Angeles, CA, USA;(4) Division of Medical Genetics, University of California, USA;(5) Division of Medical Genetics, Department of Pediatrics, University of Calgary, T2N 4N1 Calgary, Alberta, Canada |
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| Abstract: | Summary Serum cholinesterase (butyrylcholinesterase, EC 3.1.1.8, BChE) is controlled by two genetic loci, CHE1 and CHE2. The CHE1 locus has been mapped to 3q, but the map location of CHE2 is uncertain. In an effort to clarify the location of CHE2, we combined all the published linkage analysis data for CHE2 (as summarized in the Keats Linkage Database) with the data from the UCLA Linkage Database. Exclusions with substantial portions of the genome could be made (notably with portions of chromosomes 1, 2, 3, 4, 6, 7, 8, 9, 14, 16, 18, 19, 20, 22, and LG1). Although not quite statistically significant
, loose linkage ( =0.32) of CHE2 with the haptoglobin locus on 16q22 was the most likely conclusion from the family data. In addition, calculating the lod score between CHE2 and the available linkage map of chromosome 16 (markers HBA, PGP, FRA16A, and HP) resulted in an overall lod score of 3.2. This result is particularly intriguing given the hybridization of a BChE cDNA (designated CHEL3) to the same region. Resolution of the issue will require more detailed linkage studies of CHE2 on chromosome 16 and a better understanding of the relationship between the CHE1 and CHE2 loci with respect to production of serum cholinesterases. |
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