NEW ALLELE AT CHOLINESTERASE LOCUS-1

NEW ALLELE AT CHOLINESTERASE LOCUS-1
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DOI:
10.1136/jmg.13.1.38
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发表时间:
1976-01-01
影响因子:
4
通讯作者:
RUBINSTEIN, HM
RUBINSTEIN, HM
中科院分区:
医学1区
文献类型:
--
作者:
GARRY, PJ;DIETZ, AA;RUBINSTEIN, HM

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本文报道了一个在胆碱酯酶基因座1上分离A和F等位基因的家系(H-J家系)。明显的异常结果导致识别出一个新的等位基因(E1 j),该等位基因也在该家族中分离。这些数据与E1 j导致“普通”(E1 u)分子减少约66%的假设一致。这是因为血清胆碱酯酶的合成迟缓还是降解加速,尚待确定。
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.