کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5906411 | 1159970 | 2013 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
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کلمات کلیدی
MLPAMPKUBH4-responsivenessMild hyperphenylalaninemiaThermus aquaticusMHPPRABH4dNTPRFLPPKUPHEPAHHRMmRNAphenylketonuria - فنیل کتونوریmessenger RNA - RNA messengerEDTA - اتیلن دی آمین تترا استیک اسید Ethylenediaminetetraacetic acid - اتیلینیدامین تتراستیک اسیدTaq - تاکMutation analysis - تجزیه و تحلیل جهشHuman variation - تغییرات انسانیmultiplex ligation-dependent probe amplification - تقویت پروب وابسته چندگانهTyr - تیرTyrosine - تیروزینbase pairs - جفت پایهdeoxyribonucleoside triphosphate - دز اکسید ریبونوکلئوزید تری فسفاتannealing temperature - دمای آنیلینگHigh resolution melting - ذوب شدن با وضوح بالاconcentration - غلظت Phenylalanine hydroxylase - فنیلالانین هیدروکسیلازPhenylalanine - فنیلآلانینMelting curve - منحنی ذوبHPA - میلی بار یا هکتوپاسکالHyperphenylalaninemia - هیپرفنیلالانینمیunit - واحدpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازrestriction-fragment length polymorphism - پلی مورفیسم طول قطعه محدودیتkilobases - کیلوبا ها
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness](/preview/png/5906411.png)
چکیده انگلیسی
We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed using high-resolution melting analysis, with subsequent sequencing analysis of the samples showing deviated melting profiles compared to control samples. The PAH gene was also screened for deletions and duplications using MLPA analysis. Forty-eight different disease causing mutations were identified in our patient group, including 30 missense, 8 splicing, 7 nonsense, 2 large deletions and 1 small deletion with frameshift; giving a detection rate of 97.6%. The most prevalent mutation was the p.R408W, occurring in 47% of all alleles, which concurs with results from neighboring and other Slavic countries. Other frequent mutations were: p.R158Q (5.3%), IVS12 + 1G>A (5.3%), p.R252W (5.1%), p.R261Q (3.9%) and p.A403V (3.6%). We also identified three novel missense mutations: p.F233I, p.R270I, p.F331S and one novel variant: c.â 30A>T in the proximal part of the PAH gene promoter. A spectrum of 84 different genotypes was observed and a genotype based predictions of BH4-responsiveness were assessed. Among all genotypes, 36 were predicted to be BH4-responsive represented by 51 PKU families. In addition, genotype-phenotype correlations were performed.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 526, Issue 2, 10 September 2013, Pages 347-355
Journal: Gene - Volume 526, Issue 2, 10 September 2013, Pages 347-355
نویسندگان
Emil Polak, Andrej Ficek, Jan Radvanszky, Andrea Soltysova, Otto Urge, Eleonora Cmelova, Dana Kantarska, Ludevit Kadasi,