SERUM CHOLINESTERASE (PSEUDOCHOLINESTERASE) IN DOWN'S SYNDROME: 1. PHENOTYPE FREQUENCIES AT THE E<sub>1</sub> AND E<sub>2</sub> LOCI

Drew, Anne H.; Rundle, A. T.

doi:10.1111/j.1365-2788.1977.tb00037.x

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Observed and Expected Phenotypic Frequencies1

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1982

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“…Nevertheless, any highly significant result would have become apparent in our investigation. inhibition values are slightly higher than those of Drew & Rundle (1977), but this is unlikely to be significant since the pheno- Table 3 The observed and expected HSChE phenotypic frequencies estimated from gene frequency data in Mourant et al (1976)…”

Section: Observed and Expected Phenotypic Frequenciesmentioning

confidence: 99%

Serum cholinesterase in the mothers of neural tube defect progeny

Lawrie

1982

Clinical Genetics

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Human Serum Cholinesterase activity and polymorphism at its two gene loci, CHE1 and CHE2, were compared in maternal serum from neural tube defect pregnancies, normal pregnancies and a non‐pregnant control group. Variants at the CHE1 locus were identified by dibucaine, fluoride and R02 0683 inhibition. The CHE2 phenotype was demonstrated by DISC polyacrylamide gel electrophoresis. Total HSChE activity in the pregnant groups was slightly less than in the control group but there was no difference in activity between the affected and the normal pregnancies. Three variants were identified. All were found in the non‐affected pregnant group. One variant at CHE1 was identified, an I phenotype, and two C5+ phenotypes, the CHE2 variant. No obvious relationships were found between HSChE activity or a particular genetic variant and NTD progeny.

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Section: Observed and Expected Phenotypic Frequenciesmentioning

confidence: 99%