PCR detection of the BgIII RFLP at the human phenylalanine hydroxylase (PAH) locus
نویسندگان
چکیده
منابع مشابه
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.
Because defects in the phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linkage disequilibrium soon after the gene was cloned. Studies in the 1980s concentrated on European populations in which PKU was common and showed that haplotype-frequency variation exists between some regions of the world. In European populations, linkage diseq...
متن کاملgenetic diversity and balancing selection within the human phenylalanine hydroxylase (pah) gene region in iranian population
background: genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (pah) gene region including pvu ii (a), pahstr and msp i were investigated. methods: unrelated individuals (n=139) from the iranian populations were genotyped using primers specific to pah gene markers including pvu ii(a), msp i and pahstr. the amplified products for pvu ii(a), msp i were digested using ...
متن کاملPhenylalanine hydroxylase (PAH) from the lower eukaryote Leishmania major.
Aromatic amino acid hydroxylases (AAAH) typically use tetrahydrobiopterin (H(4)B) as the cofactor. The protozoan parasite Leishmania major requires biopterin for growth and expresses strong salvage and regeneration systems to maintain H(4)B levels. Here we explored the consequences of genetic manipulation of the sole L. major phenylalanine hydroxylase (PAH) to explore whether it could account f...
متن کاملRFLPs at the PAH (phenylalanine hydroxylase) gene in the Japanese population.
Source and Description of Clone: phPAH247, a 2.4 kb EcoSl fragment subcloned into pBR322 from a human liver cDNA library (1).
متن کاملGenetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population
BACKGROUND Genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (PAH) gene region including PvuII (a), PAHSTR and MspI were investigated. METHODS Unrelated individuals (n=139) from the Iranian populations were genotyped using primers specific to PAH gene markers including PvuII(a), MspI and PAHSTR. The amplified products for PvuII(a), MspI were digested using the ap...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1991
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/19.8.1958-a