Literature DB >> 1248817

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

G Machill, A Knapp.   

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.

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Year:  1976        PMID: 1248817     DOI: 10.1007/bf00270406

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  5 in total

Review 1.  [Congenital disorders of galactose metabolism].

Authors:  F C Sitzmann; H Kaloud
Journal:  Med Klin       Date:  1975-03-21

Review 2.  Cystic fibrosis: population genetics.

Authors:  P M Conneally; A D Merritt; P L Yu
Journal:  Tex Rep Biol Med       Date:  1973

3.  [Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test].

Authors:  G Machill
Journal:  Kinderarztl Prax       Date:  1973-05

4.  [Studies on the frequencies of inborn errors of metabolism in Eastern and Western Austria].

Authors:  O Thalhammer; V Scheiber
Journal:  Humangenetik       Date:  1972

5.  Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant.

Authors:  E Beutler
Journal:  Isr J Med Sci       Date:  1973 Sep-Oct
  5 in total
  2 in total

1.  Ethnic distribution of phenylketonuria in the north German population.

Authors:  G Flatz; M Oelbe; H Herrmann
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  Incidence of phenylketonuria (PKU) in Iran.

Authors:  D D Farhud; M Kabiri
Journal:  Indian J Pediatr       Date:  1982 Sep-Oct       Impact factor: 1.967

  2 in total

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