Abstract
We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the second mutant allele of family F1, has been previously detected in Chinese patients. Haplotype analysis showed that the latter mutation is linked to the same haplotype (H4) in both Chinese and Italian patients, suggesting a common origin. In vivo assessment of mutation severity indicates that N207S is associated with classic PKU. The identification of these two new mutations further extends the remarkable heterogeneity of the PAH locus in the Italian population.
| Original language | English |
|---|---|
| Pages (from-to) | 275-278 |
| Number of pages | 4 |
| Journal | Human Genetics |
| Volume | 99 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 1997 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
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Two novel PAH gene mutations detected in Italian phenylketonuric patients. / Argiolas, Alessandra; Bosco, Paolo; Calì, Francesco; Ceratto, Nadia; Anello, Guido; Riva, Enrica; Biasucci, Giacomo; Carducci, Carla; Romano, Valentino.
In: Human Genetics, Vol. 99, No. 2, 02.1997, p. 275-278.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Two novel PAH gene mutations detected in Italian phenylketonuric patients
AU - Argiolas, Alessandra
AU - Bosco, Paolo
AU - Calì, Francesco
AU - Ceratto, Nadia
AU - Anello, Guido
AU - Riva, Enrica
AU - Biasucci, Giacomo
AU - Carducci, Carla
AU - Romano, Valentino
PY - 1997/2
Y1 - 1997/2
N2 - We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the second mutant allele of family F1, has been previously detected in Chinese patients. Haplotype analysis showed that the latter mutation is linked to the same haplotype (H4) in both Chinese and Italian patients, suggesting a common origin. In vivo assessment of mutation severity indicates that N207S is associated with classic PKU. The identification of these two new mutations further extends the remarkable heterogeneity of the PAH locus in the Italian population.
AB - We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the second mutant allele of family F1, has been previously detected in Chinese patients. Haplotype analysis showed that the latter mutation is linked to the same haplotype (H4) in both Chinese and Italian patients, suggesting a common origin. In vivo assessment of mutation severity indicates that N207S is associated with classic PKU. The identification of these two new mutations further extends the remarkable heterogeneity of the PAH locus in the Italian population.
UR - http://www.scopus.com/inward/record.url?scp=0031026870&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031026870&partnerID=8YFLogxK
U2 - 10.1007/s004390050353
DO - 10.1007/s004390050353
M3 - Article
VL - 99
SP - 275
EP - 278
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2
ER -