Biomaterial Database

SacI RFLPs at the D8S51 locus. 1990

B Horsthemke, and R Burdiek, and H J Lüdecke

Institut für Humangenetik, Universitätsklinikum Essen, FRG.

UI	MeSH Term	Description	Entries
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002898	Chromosomes, Human, Pair 8	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 8
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015252	Deoxyribonucleases, Type II Site-Specific	Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.	DNA Restriction Enzymes, Type II,DNase, Site-Specific, Type II,Restriction Endonucleases, Type II,Type II Restriction Enzymes,DNase, Site Specific, Type II,Deoxyribonucleases, Type II, Site Specific,Deoxyribonucleases, Type II, Site-Specific,Site-Specific DNase, Type II,Type II Site Specific DNase,Type II Site Specific Deoxyribonucleases,Type II Site-Specific DNase,Type II Site-Specific Deoxyribonucleases,Deoxyribonucleases, Type II Site Specific,Site Specific DNase, Type II
D015826	Langer-Giedion Syndrome	Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).	Acrodysplasia V,Giedion-Langer Syndrome,Trichorhinophalangeal Syndrome Type II,TRPSII,Tricho-Rhino-Phalangeal Syndrome Type II,Trichorhinophalangeal Syndrome Type 2,Trichorhinophalangeal Syndrome with Exostoses,Trichorhinophalangeal Syndrome, Type II,Acrodysplasia Vs,Giedion Langer Syndrome,Langer Giedion Syndrome,Syndrome, Giedion-Langer,Syndrome, Langer-Giedion,Tricho Rhino Phalangeal Syndrome Type II