Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 393-396, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-326926
ABSTRACT
<p><b>OBJECTIVE</b>To study the mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase gene (PAH) in Shanxi population.</p><p><b>METHODS</b>The mutations in exons 3, 6, 7, 11 and 12 and flanking sequences of PAH gene were detected by PCR-DNA sequencing, in 59 patients with phynelketonuria(PKU) and 100 healthy children from Shanxi province.</p><p><b>RESULTS</b>By sequence analysis, three single nucleotide polymorphism (SNP) Q232Q (CAA>CAG), V245V (GTG>GTA) and L385L (CTG>CTC) were detected in both the patients and healthy children, with the frequencies of nt 696, 735 and 1155 of the PAH cDNA up to 96.2%, 76.1% and 7.6% in patients respectively, and 97.0%, 77.3% and 8.3% respectively in the healthy controls. In addition, 72 different mutations accounting for 61.0% of mutant alleles were identified in the patients only. In exon 3, R111X, H64>TfsX9 and S70 del were found accounting for 5.1%, 0.8% and 0.8%; EX6-96A>G in exon 6 was found accounting for 10.2%. In exon 7, R243Q was the highest incidence accounting for 12.7%, followed by Ivs7+2 T>A(5.1%) and T278I(2.5%); the lowest incidences were G247V, R252Q, L255S, R261Q and E280K accounting for 0.8 %, respectively. In exon 11, Y356X (5.9%) and V399V (5.1%) were found; in exon 12, R413P and A434D were found accounting for 5.9% and 2.5%. In total, 9 missense mutations, 3 splice site mutations, 2 nonsense mutations and 2 deletions were included in 16 kinds of different mutations.</p><p><b>CONCLUSION</b>The mutation characteristics and distribution in exons 3, 6, 7, 11 and 12 of the PAH gene have been identified, and it suggested that the EX6-96A>G and R243Q were the hot spots of PAH gene mutations in Shanxi PKU population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
/
DNA Mutational Analysis
/
Base Sequence
/
Case-Control Studies
/
China
/
Exons
/
Polymorphism, Single Nucleotide
/
Asian People
/
Genetics
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Female
/
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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