Biomaterial Database

New PCR-based method for the Sp1 site polymorphism in the COL1A1 gene. 2001

A Vinkanharju, and T Melkko, and J Risteli, and L Risteli

Department of Clinical Chemistry, University of Oulu, Finland.

Polymorphism in the Sp1 binding site in the first intron of the COL1A1 gene has been related to increased risk of osteoporosis in several populations. To overcome the difficulties associated with the use of mismatch oligonucleotide primers in the original method for its detection, we developed a procedure involving PCR amplification of a 598-base pair sequence from the intron and its digestion with the restriction enzyme Van 91 I. The more frequent allele is recognized by the enzyme, whereas the reaction is abolished in the less frequent allele. Two convenience samples from the population in northern Finland, consisting altogether of 173 individuals, were studied. The overall frequencies were 0.864 for the G and 0.136 for the T allele, with a heterozygocity of 27.2%. The frequency of the T allele is towards the lower end of the range observed for other European populations.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011110	Polymorphism, Genetic	The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.	Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D003094	Collagen	A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).	Avicon,Avitene,Collagen Felt,Collagen Fleece,Collagenfleece,Collastat,Dermodress,Microfibril Collagen Hemostat,Pangen,Zyderm,alpha-Collagen,Collagen Hemostat, Microfibril,alpha Collagen
D005260	Female		Females
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090602	Collagen Type I, alpha 1 Chain	A fibrillar collagen found predominantly in BONE and SKIN.	COL1A1 Protein,Collagen Type I, alpha 1 Subunit,Collagen alpha 1 (I),Pro alpha 1 Collagen,Pro-alpha1(I) Collagen,Procollagen alpha1(I),Type I Collagen alpha 1,Protein, COL1A1
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D016133	Polymerase Chain Reaction	In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.	Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

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