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Human genome

The human genome consists of 23 chromosome and the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs and the last one being a gender-determining pair. In total, the human genome contains the sequences of the 3 billion chemical base pairs that make up human DNA and approximately 20,000-25,000 genes. By understanding human genome, scientists are able to develop new medical applications that can significantly advance the state of health care.

Contributors in Human genome

Human genome

gene amplification

Medical; Human genome

1) A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the ...

galactosylceramides

Medical; Human genome

Cerebrosides which contain as their polar head group a galactose moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ...

flanking marker

Medical; Human genome

An identifiable, polymorphic region of DNA (i.e., marker) located to the side of a gene (i.e., flanking), as opposed to an intragenic marker which is located within the gene itself. Flanking markers ...

goiter

Medical; Human genome

Enlargement of the thyroid gland.

fatty liver

Medical; Human genome

1) Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of triglycerides, either as a single large droplet ...

gene expression

Medical; Human genome

1) The process by which a gene's coded information is translated into the structures present and operating in the cell (either proteins or RNAs). 2) Gene expression is the process by which the ...

gene dosage

Medical; Human genome

The number of copies of a given gene present in a cell or nucleus. An increase in gene dosage can result in the formation of higher levels of gene product, provided that the gene is not subject to ...

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