Geographical distribution gradients of the major PKU mutations and the linked haplotypes
Kalaydjieva, L. ; Dworniczak, B. ; Kucinskas, V. ; Yurgeliavicius, V. ; Kunert, E. ; Horst, J.
Springer
Published 1991
Springer
Published 1991
| ISSN: |
1432-1203
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans.
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| Type of Medium: |
Electronic Resource
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| URL: |