کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2817091 1159966 2013 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation
چکیده انگلیسی


• We characterize 78 unrelated chromosomes from 39 Syrian PKU patients.
• A mutation detection rate of 79.49%
• Sixteen different mutations were found.
• Genotype–phenotype correlations were reported.

Characterization of the molecular basis of phenylketonuria (PKU) in Syria has been accomplished through the analysis of 78 unrelated chromosomes from 39 Syrian patients with PKU. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed by using molecular detection methods based on the restriction fragment length polymorphism (RFLP), artificial constructed restriction sites (ACRS) PCR and direct DNA sequencing. 56.4% of the patients had cPKU. A mutation detection rate of 79.49% was achieved and sixteen different mutations were found: missense 56.25%, splice site 37.5%, and frameshift 6.25%. The predominant mutation in this population sample was p.R261Q G>A, p.F55>Lfs and p.R243Q G>A. No mutation in six PKU patients was observed. In 57.9% of patient genotypes, the metabolic phenotype could be predicted. The identification of the mutations in the PAH gene and the genotype–phenotype correlation should facilitate the evaluation of metabolic phenotypes, diagnosis, implementation of optimal dietary therapy, and determination of prognosis in the patients and genetic counseling for the patient's relatives.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 528, Issue 2, 10 October 2013, Pages 241–247
نویسندگان
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