Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

Human Mutation

Volumn 21, Issue 4, 2003, Pages 387-393

  Tighe, Orna ^a,b   Dunican, Donncha ^a,b   O'Neill, Charles ^a   Bertorelle, Giorgio ^c   Beattie, Diane ^d   Graham, Colin ^d   Zschocke, Johannes ^e   Cali, Francesco ^f   Romano, Valentino ^g   Hrabincova, Eva ^h   Kozak, Libor ^h   Nechyporenko, Marina ⁱ   Livshits, Ludmilla ⁱ   Guldberg, Per ^j   Jurkowska, Monika ^k   Zekanowski, Cezary ^l   Perez, Belen ^m   Desviat, Lourdes Ruiz ^m   Ugarte, Magdalena ^m   Kučinskas, Vaidutis ⁿ   Knappskog, Per ^o   Treacy, Eileen ^a   Naughten, Eileen ^a   Tyfield, Linda ^p   Byck, Susan ^q   Scriver, Charles R ^q   Mayne, Philip D ^a   Croke, David T ^b   more..

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^c UNIVERSITY OF FERRARA   (Italy)

^d QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f OASI RESEARCH INSTITUTE IRCCS   (Italy)

^g UNIVERSITY OF PALERMO   (Italy)

^h Research Institute of Child Health Brno   (Czech Republic)

ⁱ INSTITUTE OF MOLECULAR BIOLOGY AND GENETICS   (Ukraine)

^j JOHN F KENNEDY INSTITUTE   (Denmark)

^k INSTITUTE OF MOTHER AND CHILD   (Poland)

^l INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

^m UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

ⁿ VILNIUS UNIVERSITY   (Lithuania)

^o HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^p UNIVERSITY OF BRISTOL   (United Kingdom)

^q MCGILL UNIVERSITY   (Canada)

more..

Author keywords

Europe; PAH; Phenylalanine hydroxylase; Phenylketonuria; PKU; Population genetics; STR; VNTR

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SEQUENCE; ARTICLE; EUROPE; GENE CASSETTE; GENE LOCUS; GENE MUTATION; GENETIC LINE; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; POPULATION GENETICS; PRIORITY JOURNAL; SPATIAL AUTOCORRELATION ANALYSIS; TANDEM REPEAT; VARIABLE NUMBER OF TANDEM REPEAT; WILD TYPE;

AMINO ACID SUBSTITUTION; ARGININE; EUROPE; FOUNDER EFFECT; GENETIC SCREENING; HUMANS; MICROSATELLITE REPEATS; MINISATELLITE REPEATS; MUTATION; PHENYLKETONURIAS; TRYPTOPHAN; VARIATION (GENETICS);

EID: 0037240098     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10195     Document Type: Article

References (32)

1. Bodmer W, Cavalli-Sforza LL. 1971. The genetics of human populations. San Francisco: W.H. Freeman & Company. p. 39-70.
2. Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR. 1994. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum Mol Genet 3:1675-1677.
3. Desviat LR, Perez B, Gamez A, Sanchez A, Garcia MJ, Martinez-Pardo M, Marchante C, Boveda D, Badellou A, Arena J, Sanjurjo P, Fernandez A, Cabello ML, Ugarte M. 1999. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet 7:386-392.
4. DiLella A, Marvit J, Brayton K, Woo S. 1987. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333-336.
5. Eisensmith R, Woo S. 1992. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 51:1445-1448.
6. Eisensmith RC, Okano Y, Dasovich M, Wang T, Guttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, Hagenfeldt L, Rey F, Munnich A, Lyonnet S, Cockburn F, Connor JM, Pembrey ME, Smith I, Gitzelmann R, Steinmann B, Apold J, Eiken HG, Giovannini M, Riva E, Longhi R, Romano C, Cerone R, Naughten ER, Mullins C, Cahalane S, Ozalp I, Kekete G, Schuler D, Berencsi GY, Nasz I, Brdicka R, Kamaryt J, Pijackova A, Cabalska B, Boszkowa K, Schwartz E, Kalinin VN, Jin L, Chakraborty R, Woo SLC. 1992. Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:1355-1365.
7. Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR, Guttler F, Guldberg P, Eiken HG, Apold J, Svensson E, Naughten E, Cahalane SF, Croke DT, Cockburn F, Woo S. 1995. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 56:278-286.
8. Giannattasio S, Jurgelevicius V, Lattanzio P, Cimbalistiene L, Marra E, Kucinskas V. 1997. Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation. Hum Hered 47:155-160.
9. Giannattasio S, Dianzani I, Lattanzio P, Spada M, Romano V, Cali F, Andria G, Ponzone A, Marra E, Piazza A. 2001. Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes. Hum Hered 52:154-159.
10. Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SL. 1992. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet 51:627-636.
11. Goltsov A, Eisensmith R, Naughten E, Jin L, Chakraborty R, Woo S. 1993. A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum Mol Genet 2:577-581.
12. John SWM, Rozen R, Scriver CR, Laframboise R, Laberge C. 1990. Recurrent mutation, gene conversion or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalogue of mutations. Am J Hum Genet 46:970-974.
13. Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J. 1991. Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum Genet 86:411-413.
14. Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kucinskas V. The molecular basis of phenylketonuria in Lithuania. Hum Mutat 21:398.
15. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. 1997. Human phenylalanine hydroxylase mutations and hyperphenylalaninaemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet 61:1309-1317.
16. Kozak L, Blazkova M, Kuhrova V, Pijackova A, Ruzickova S, St'astna S. 1997. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. J Med Genet 34:893-898.
17. Lidsky A, Robinson K, Thirumalachary C, Barker P, Ruddle F, Woo S. 1984. The PKU locus in man is on chromosome 12. Am J Hum Genet 36:527-533.
18. Nechyporenko MV, Kravchenko SA, Livshits LA. 2001. Mutation and VNTR-polymorphism analysis of phenylalanine hydroxylase gene. Ukr J Biochem 73:63-67.
19. Oden NL. 1984. Assessing the significance of a spatial correlogram. Geogr Anal 16:1-16.
20. O'Donnell KA, O'Neill C, Tighe O, Bertorelle G, Naughten E, Mayne PD, Croke D. 2002. The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited. Eur J Hum Genet 10:530-538.
21. O'Neill C, Eisensmith RC, Croke D, Naughten ER, Cahalane SF, Woo SLC. 1994. Molecular analysis of PKU in Ireland. Acta Paediatr 407:43-44.
22. Scriver CR, Byck S, Prevost L, Hoang L, and the PAH Mutation Analysis Consortium. 1996. The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. In: Chadwick D, Cardew G, editors. Variation in the human genome. CIBA Found Symposium 197. Chichester: J Wiley & Sons. p. 73-96.
23. Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Cote D, Novak J, Teebi S, Nowacki PM. 2000. PAHdb: a locus-specific knowledgebase. Hum Mutat 15:99-104.
24. Scriver CR. 2001. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2:69-101.
25. Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Sarkissian C, McDonald D, Ryan S. 2003. PAHdb: updates on a locus-specific knowledgebase. Hum Mutat 21:333-344.
26. Sokal RR, Oden NL. 1978. Spatial autocorrelation analysis in biology. Biol J Linn Soc Lond 10:199-249.
27. Treacy E, Byck S, Clow C, Scriver C. 1993. 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province. Eur J Hum Genet 1:220-228.
28. Woo S, Lidsky A, Guttler F, Chandra T, Robson K. 1983. Cloned human phenylalanine hydroxylase gene permits prenatal and carrier detection of classical phenylketonuria. Nature 306:151-155.
29. Woo S. 1988. Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 43:781-783.
30. Zschocke J. 2003. Phenylketonuria mutations in Europe. Hum Mutat 21:345-356.
31. Zschocke J, Graham C, McKnight J, Nevin N. 1994. The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers. Acta Paedtr (Suppl)407:41-42.
32. Zschocke J, Mallory JP, Eiken HG, Nevin N. 1997. Phenylketonuria and the peoples of Northern Ireland. Hum Genet 100:189-194.