Rubinstein H M, Dietz A A, Lubrano T
J Med Genet. 1978 Feb;15(1):27-9. doi: 10.1136/jmg.15.1.27.
Two families segregating for the atypical (E1a) allele at cholinesterase locus 1 are described. Unusual results for dibucaine inhibition led to the recognition of a new allele (E1k) also segregating in these families. The enzymatic and immunological data are consistent with the hypothesis that E1k causes reduction of 'usual' (E1u) molecules by about 33%. Whether the reduction of E1u caused by E1k is caused by retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.
描述了两个在胆碱酯酶基因座1上分离出非典型（E1a）等位基因的家族。丁卡因抑制试验的异常结果导致发现了一个也在这些家族中分离的新等位基因（E1k）。酶学和免疫学数据与E1k导致“正常”（E1u）分子减少约33%这一假说相符。E1k导致的E1u减少是由血清胆碱酯酶合成延迟还是降解加速引起的，仍有待确定。
