Download PDF by Philip M. Parker: AB Variant GM2-Gangliosidosis - A Bibliography and

By Philip M. Parker

ISBN-10: 0497112256

ISBN-13: 9780497112257

ISBN-10: 1429497548

ISBN-13: 9781429497541

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Additional info for AB Variant GM2-Gangliosidosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

Sample text

Different groups of researchers often present slightly different values for a gene’s molecular location. Researchers interpret the sequence of the human genome using a variety of methods, which can result in small differences in a gene’s molecular address. For example, the National Center for Biotechnology Information (NCBI) identifies the molecular location of the APOE gene as base pair 50,100,901 to base pair 50,104,488 on chromosome 19. The Ensembl database identifies the location of this gene as base pair 50,100,879 to base pair 50,104,489 on chromosome 19.

Examples Huntington disease, neurofibromatosis type 1 44 AB Variant GM2-Gangliosidosis Autosomal recessive Two mutated copies of the gene are present in each cell when a person has an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family. cystic fibrosis, sickle cell anemia X-linked dominant X-linked dominant disorders are caused by mutations in genes on the X chromosome.

Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladder’s rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder. An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases.

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AB Variant GM2-Gangliosidosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker

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