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(STS) A short DNA segment that occurs only once in the human genome and whose exact location and order of bases are known. Because each is unique, STSs are helpful for chromosome placement of mapping and sequencing data from many different laboratories. STSs serve as landmarks on the physical map of the human genome.
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(SCID) A disease affecting the immune system. SCID is fatal if affected individuals do not receive bone marrow transplants.
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One of the two chromosomes that specify an organism's genetic sex. Humans have two kinds of sex chromosomes, one called X and the other Y. Normal females possess two X chromosomes and normal males one X and one Y.
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Located on the X chromosome. Sex-linked (or x-linked) diseases are generally seen only in males.
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An approach used to decode an organism's genome by shredding it into smaller fragments of DNA which can be sequenced individually. The sequences of these fragments are then ordered, based on overlaps in the genetic code, and finally reassembled into the complete sequence. The 'whole genome shotgun' method is applied to the entire genome all at once, while the 'hierarchical shotgun' method is applied to large, overlapping DNA fragments of known location in the genome.
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A blood condition seen most commonly in people of African ancestry. The disorder is caused by a single base pair change in one of the genes that codes for hemoglobin, the blood protein that carries oxygen. This mutation causes the red blood cells to take on a sickle shape, rather than their characteristic donut shape. Individuals who suffer from sickle cell disease are chronically anemic and experience significant damage to their heart, lungs, and kidneys.
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(SNPs) Common, but minute, variations that occur in human DNA at a frequency of one every 1,000 bases. These variations can be used to track inheritance in families. SNP is pronounced "snip".
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All body cells, except the reproductive cells.
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A technique used to identify and locate DNA sequences which are complementary to another piece of DNA called a probe.
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(SKY) A visualization of all of an organism's chromosomes together, each labeled with a different color. This technique is useful for identifying chromosome abnormalities.
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Replacement of one nucleotide in a DNA sequence by another nucleotide or replacement of one amino acid in a protein by another amino acid.
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A strategy for making cancer cells more vulnerable to chemotherapy. One approach has been to link parts of genes expressed in cancer cells to other genes for enzymes not found in mammals that can convert a harmless substance into one that is toxic to the tumor.
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The group or recognizable pattern of symptoms or abnormalities that indicate a particular trait or disease.
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