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Læknablaðið - 01.06.1977, Qupperneq 28

Læknablaðið - 01.06.1977, Qupperneq 28
98 LÆKNABLAÐIÐ SUMMARY Elín Ólafsdóttir and Alfreð Árnason Frequency of „atypical“ serum cholinester- ase. One member of a large family had previously been diagnosed with an „atypical" serum cholinesterase. Serum samples from five sisters and brothers and four children of that member were analysed with respect to „atypical" serum cholinesterase. Four members were shoiwn to be homozygous with respect to the „atypical" cholinesterase gene (E^E^a), but six were heterozygous with respect to the „atypical" gene (E^E^a). Gene frequency for E,a was estimated on 415 randomly sampled sera. The genefrequency was calculated 0.0205 and from that one would expect one in every 2400 Icelanders to be homozygous with respect to the „atypical" cholinesterase gene. ÞAKKARORÐ Við þökkum forráðamönnum Hjarta- verndar fyrir gjöf á serumsýnum og Eddu Emilsdóttur, meinatækni, fyrir ötula að- stoð við rannsóknarstörf. HEIMILDASKRÁ 1. Agarwal, D.P., Schwenkenbecker, S„ Sriva- stava, L.M. og Goedde, H.W. A specthro- photometric method for the determination of serum cholinesterase variants with suc- cinil choline as substrate, Z.Klin.Chem,- Klin.Biochem. 13:133, 1975. 2. Agarwal, D.P., Schwenkenbecker, S. og Goedde, H.W. New serum cholinesterase variants detected by using the muscle re- laxant succinyldicholine as substrate. Tenth International Congress of Biochemistry Ah- stracts, Hamburg, 1976, 13-1-197. 3. Árnason, A. og Bjarnason, Ó. Post mortem changes of human serum esterases. An elec- trophoretic study. Acta Path. Microbiol. Scand., Section A. 80 841, 1972. 4. Árnason, A„ Jensson, Ö. og Guðmundsson, S. Öndunarlömun af vöðvaslappandi lyfi vegna arfgengs skorts á serumcholinester- asa. LceknablaöiS, 60:15. 1974. 5. Árnason, A„ Jensson, Ó. og Guðmundsson S. Serum esterases of Icelanders I. A „silent“ pseudocholinesterase gene in an Icelandic family. Clin. Genet. 7:405. 1975. 6. Bamford, K.F. og Harris, H. Studies on „usual“ and „atypical" serum cholinesterase using a-naphthyl acetate as substrate. Ann. Hum. Genet., 27:417. 1964. 7. Jónsson, Ó. Afbrigðilegir cholinesterasar sem orsök langvarandi apnea. Lœknablaöiö, 60:13. 1974. 8. Kalow, W. og Genest, K. A method for the detection of atypical forms of human serum cholinesterase. Determination of dibucaine numbers. Can J. Biochem. Physiol., 35:339. 1957. 9. Steeg-Muller, H. On the geographical dis- tribution of pseudocholinesterase variants. Humangenetik, 26:167. 1975.
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