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Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles
Author(s) -
Kalaydjieva L.,
Dworniczak B.,
Kromensky I.,
Koprivarova K.,
Radeva B.,
Milusheva R.,
AulehlaScholz C.,
Horst J.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03647.x
Subject(s) - haplotype , genetics , phenylalanine hydroxylase , allele , bulgarian , biology , compound heterozygosity , mutation , heterozygote advantage , allelic heterogeneity , mendelian inheritance , gene , amino acid , phenylalanine , linguistics , philosophy
Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla‐Scholz C, Horst J. Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles. Clin Genet 1992: 41: 123–128. A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU. These findings preclude carrier testing and hyperphe‐nylalaninemia typing by genomic analysis at least in the heterogeneous Bulgarian population.