Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test
نویسندگان
چکیده
منابع مشابه
a phonological contrastive analysis of kurdish and english
deposite the different criticisms on contrastive analysis it has been proved that the results of it(when processed)can be usuful in a tefl environment,specially at the level of phonology.this study is an attempt to compare and contrast the sound systems of kurdish and english for pedagogical aims. the consonants,vowels,stress and intonation of the twolanguages are described by the same model-ta...
15 صفحه اولAssociation Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.
INTRODUCTION We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients. MATERIAL AND METHODS VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR. OUTCOMES Our analysis showed that 95% of cases were homozygote for an allele containin...
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این پایان نامه به بررسی و مقایسه دو موضوع مطابقه میان فعل و فاعل (از نظر شخص و مشار) و هسته عبارت در دو زبان انگلیسی و آذربایجانی می پردازد. اول رابطه دستوری مطابقه مورد بررسی قرار می گیرد. مطابقه به این معناست که فعل مفرد به همراه فاعل مفرد و فعل جمع به همراه فاعل جمع می آید. در انگلیسی تمام افعال، بجز فعل بودن (to be) از نظر شمار با فاعلشان فقط در سوم شخص مفرد و در زمان حال مطابقت نشان میدهند...
15 صفحه اولSpectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequen...
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Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...
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ژورنال
عنوان ژورنال: Methods and Protocols
سال: 2018
ISSN: 2409-9279
DOI: 10.3390/mps1030030