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On the population genetics of phenylketonuria in the G.D.R.

作者信息

Machill G, Knapp A

出版信息

Hum Genet. 1976 Jan 28;31(1):107-11. doi: 10.1007/BF00270406.

Abstract

By means of the analysis of the geographical distribution of the birth-places of cases with phenylketonuria, who were detected in a nation-wide screening for phenylketonuria by the Guthrie test during a period of more than 5 years, 3 areas with a remarkably different frequency can be recognized: a) in the districts of Cottbus, Leipzig, Halle and Frankfort the frequency of the phenylketonuria is amounting to 1:6275, of the phenylketonuria-gene to 0.0126 and of the heterozygotes to 2.49%; b) in the remaining districts with the exception of two districts the frequency is significantly lower (1:11272, 0.0094, 1.86%); c) in the districts of Karl-Marx-Stadt and Neubrandenburg this metabolic disease is relatively rare (1:14769, 0.0082, 1.63%). In regions with a high frequency of the phenylketonuria the permanent mild hyperphenylalaninaemia is also twice more frequent than in the remaining country.

摘要

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