New allele at cholinesterase locus 1.

A family (H-J pedigree) segregating for the A and F alleles at cholinesterase locus 1 is described. Apparent anomalous results led to the recognition of a new allele (E1j) also segregating in the family. The data are consistent with the hypothesis that the the E1j causes reduction of 'usual' (E1u) molecules by about 66%. Whether this is because of retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.

[1]  A. Dietz,et al.  E1k, another quantitative variant at cholinesterase locus 1. , 1978, Journal of medical genetics.

[2]  P. Garry,et al.  E1j, a quantitative variant at cholinesterase locus 1: immunological evidence. , 1976, Journal of medical genetics.

[3]  A. Dietz,et al.  Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholine-dithiobis(nitrobenzoic acid)procedure. , 1973, Clinical chemistry.

[4]  P. Garry,et al.  Further variation of the "silent" cholinesterase gene. , 1973, Biochemical medicine.

[5]  S. Ne Polyacrylamide electrophoresis used for the detection of C5+ cholinesterase in Canadian caucasians, Indians, and Eskimos. , 1972 .

[6]  P. Garry,et al.  Identification of serum cholinesterase fluoride variants by differential inhibition in tris and phosphate buffers. , 1972, Clinical chemistry.

[7]  A. Dietz,et al.  Improved method for the differentiation of cholinesterase variants. , 1972, American journal of human genetics.

[8]  N. Simpson Polyacrylamide electrophoresis used for the detection of C5+ cholinesterase in Canadian caucasians, Indians, and Eskimos. , 1972, American journal of human genetics.

[9]  P. Garry A manual and automated procedure for measuring serum cholinesterase activity and identifying enzyme variants. Differentiation by means of Tris and phosphate buffers. , 1971, Clinical chemistry.

[10]  A. Dietz,et al.  Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes. , 1970, The Journal of clinical investigation.

[11]  A. Motulsky,et al.  A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity. , 1969, American journal of human genetics.

[12]  M. Whittaker Differential Inhibition of Human Serum Cholinesterase with n-Butyl Alcohol: Recognition of New Phenotypes , 1968 .

[13]  M. Whittaker The pseudocholinesterase variants. Differentiation by means of sodium chloride. , 1968, Acta genetica et statistica medica.

[14]  H. Neitlich Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant. , 1966, The Journal of clinical investigation.

[15]  M. Whittaker,et al.  A new pseudocholinesterase phenotype? , 1960, Acta genetica et statistica medica.

[16]  W. Kalow,et al.  On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. , 1957, Canadian journal of biochemistry and physiology.