The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five mediterranean samples

Human Genetics

Volumn 100, Issue 3-4, 1997, Pages 350-355

  Calì, Francesco ^a   Dianzani, Irma ^b   Desviat, Lourdes R ^e   Perez, Belen ^e   Ugarte, Magdalena ^e   Ozguc, Meral ^d   Seyrantepe, Volkan ^d   Shiloh, Yossi ^c   Giannattasio, Sergio ^f   Carducci, Carla ^g   Bosco, Paolo ^a   De Leo, Giacomo ^h   Piazza, Alberto ^b   Romano, Valentino ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

^b Istituto di Clinica Pediatrica   (Italy)

^c TEL AVIV UNIVERSITY   (Israel)

^d HACETTEPE UNIVERSITY   (Turkey)

^e UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^f CNR   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h UNIVERSITY OF PALERMO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MINISATELLITE; MICROSATELLITE DNA; PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; PHENYLKETONURIA; POPULATION GENETICS; PRIORITY JOURNAL; SOUTHERN EUROPE; VARIABLE NUMBER OF TANDEM REPEAT;

GENE FREQUENCY; HAPLOTYPES; HUMANS; MEDITERRANEAN REGION; MICROSATELLITE REPEATS; MINISATELLITE REPEATS; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POINT MUTATION;

EID: 0030922785     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050515     Document Type: Article

References (42)

1. Avigad S, Kleiman S, Weinstein M, Cohen BE, Schwartz G, Woo SLC, Shiloh Y (1991) Compound heterozygosity in non-phenylketonuria hyperphenylalaninemia: the contribution of mutation for classical phenylketonuria. Am J Hum Genet 49:393-399
2. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155
3. Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Guttler F, Naughton E, Mullins C, Giovannini M, Riva E, Woo SLC (1991) Molecular characterization of PKU allele prevalent in southern Europe and Ireland. Somat Cell Mol Genet 17:303-309
4. Desviat RL, Perez B, Ugarte M (1993) Phenylketonuria in Spain: RELP haplotypes and linked mutations. Hum Genet 92:254-258
5. Desviat RL, Perez B, Ugarte M (1996) Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation in haplotype 34. Hum Mutat 9:66-68
6. Dianzani I, Giannattasio S, De Sanctis L, Marra E, Ponzone A, Camaschella C, Piazza A (1994) Genetic history of phenylketonuria mutations in Italy. Am J Hum Genet 55:851-853
7. Dianzani I, Giannattasio S, De Sanctis L, Alliaudi C, Lattanzio P, Dionisi Vici C, Burlina A, Burroni M, Sebastio G, Carnevale F, Guzzelta V, Marra E, Camaschella C, Ponzone A (1995) Characterization of phenylketonuria alleles in the Italian population. Eur J Hum Genet 3:294-302
8. Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J (1991 a) Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics 11:242-246
9. Dworniczak B, Wedemeyer N, Eigel A, Horst J (1991 b) PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19:1958
10. Dworniczak B, Wedemeyer N, Horst J (1991 c) PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19:1958
11. Eisensmith RC, Woo SLC (1994) Population genetics of phenylketonuria. Acta Paediatr Suppl 407:19-26
12. 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, Fekete G, Schuler D, Berencsi GY, Nàsz 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
13. Giannattasio S, Lattanzio P, Bobbe A, Marra E (1996) Detection of microsatellites by ethidium bromide staining. The analysis at the STR system in the human phenylalanine hydroxylase gene. Mol Cell Probes 11:81-83
14. Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC (1992 a) Association between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet 51:627-636
15. Goltsov AA, Eisensmith RC, Woo SLC (1992b) Detection of the XmnI RFLP at the human PAH locus by PCR. Nucleic Acids Res 20:927
16. Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SLC (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
17. Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E, Biasucci G, Henrikesen F, Guttler F (1993) Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. Hum Mol Genet 2:1703-1707
18. Hoang L, Byck S, Prevost L, Scriver CR (1996) PAH mutation analysis consortium database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res 24:127-131
19. Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D (1989) Phenylketonuria in the Greek population: haplotypes analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. Mol Biol Med 6:245-250
20. Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Stuhrmann M, Horst J (1991) Phenylketonuria mutation in southern Europeans. Lancet 337:865-866
21. Kalaydjieva L, Dworniczak B, Kremensky I, Radeva B, Horst J (1993) Population genetics of phenylketonuria in Bulgaria. Dev Brain Dysf 6:39-45
22. Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith RC, Brand N, Schwartz G, Rey F, Munnich A, Woo SLC, Shiloh Y (1994) Origins of hyperphenylalaninemia in Israel. Eur J Hum Genet 2:24-34
23. Lidski AS, Ledley FD, Di Lella AG, Kwok SCM, Daiger SP, Robson KJH, Woo SLC (1985) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619-634
24. Menozzi P, Piazza A, Cavalli-Sforza L (1978) Synthetic maps of human gene frequencies in Europeans. Science 201:786-792
25. Morral N, Bertranpetit J, Estivall X, Nunes V, Casals T, Gimènez J, Reis A, Varon-Mateeva R, Macek M Jr, Kalaydjieva L, Angelicheva D, Dancheva R, Romeo G, Russo MP, Garnerone S, Restagno G, Ferrari M, Magnani C, Claustres M, Desgeorges M, Schwartz M, Schwarz M, Dalla Piccola B, Novelli G, Ferec C, Arce M de, Nemeti M, Kere J, Anvret M, Dahl N, Kadasi L (1994) The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7:169-175
26. Ozalp I, Coskun T, Tokol S, Demircin G, Monch E (1990) Inherited metabolic disorders in Turkey. J Inherit Metab Dis 13:732-738
27. Ozguc M, Ozalp I, Coskun T, Yilmaz E, Erdem H, Ayter S (1993 a) Frequency of the IVS10nt546 mutation in 44 Turkish phenylketonuria patients. Turk J Pediatr 35:11-14
28. Ozguc M, Ozalp I, Coskun T, Yilmaz E, Erdem H, Ayter S (1993 b) Mutation analysis in Turkish phenylketonuria patients. J Med Genet 30:129-130
29. Perez B, Desviat LR, De Lucca M, Ugarte M (1994) Spectrum and origin of phenylketonuria mutations in Spain. Acta Paediatr Suppl 407:34-36
30. Piazza A, Cappello N, Olivetti E, Rendine S (1988) A genetic history of Italy. Ann Hum Genet 52:203-213
31. Ponzone A, Guardamagna O, Ferraris S, Bracco G, Cotton RGH (1987) Screening for malignant phenylketonuria. Am J Hum Genet 37:619-634
32. Romano V, Bosco P, Chiavetta V, Fasulo G, Pitronaci L, Mollica F, Meli C, Giovannini M, Riva E, Giuffrè B, Eisensmith R, Woo SLC, Romano C, Ponzone A, Dianzani I, Camaschella C, Di Pietro C, Ceratto N (1993) Geographical distribution of phenylalanine hydroxylase alleles in Sicily. Dev Brain Dysf 6:83-91
33. Romano V, Call F, Guldberg P, Guttler F, Indelicato A, Bosco P, Ceratto N (1994) Association between haplotypes, HindIII-VNTR alleles and mutations at the PAH locus in Sicily. Acta Paediatr Suppl 407:39-40
34. Romano V, Guldberg P, Guttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Call F, Ceratto N, Anello G, Bosco P (1996) PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population. J Inherit Metab Dis 19:15-24
35. Schloetterer C, Tautz D (1992) Slippage synthesis of simple sequence DNA. Nucleic Acids Res 20:211-215
36. Scriver CR, Kaufman S, Woo SLC (1989) The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS (eds) The metabolic basis of inherited diseases. McGraw-Hill, New York, pp 495-546
37. Traeger-Synodinos J, Kanavakis E, Kalogerakou M, Soulpi K, Tsangaraki S, Kattamis C (1994) Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients. Hum Genet 94:573-575
38. Tyfield LA, Osborn MJ, King SK, Jones MM, Holton JB (1993) Molecular basis of phenylketonuria in an English population. Dev Brain Dysf 6:60-67
39. Ugarte M (1982) Neonatal screening programme for amino acid disorders and congenital hypothyroidism in Spain. In: Naruse H, Irie M (eds) Neonatal screening. International symposium on neonatal screening for inborn errors of metabolism. Excerpta Medica, Amsterdam, pp 491-492
40. Wedemeyer N, Dworniczak B, Horst J (1991) PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19:1959
41. Woo SLC (1989) Molecular basis and population genetics of phenylketonuria. Biochemistry 28:1-7
42. Woolf LI (1994) Phenylketonuria in Turkey, Ireland and west Scotland. J Inherit Metab Dis 17:246-247