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Contig, Contig Map, Contiguous Gene Syndrome, Angelman Syndrome Print E-mail

Dr. Kennedy A contig is a contiguous (sid-by-side) sequence of DNA created by assembling overlapping sequenced fragments of a chromosome, in other words, a group of clones representing overlapping regions of the genome.

A contig map is a chromosome map showing the locations of those regions of a chromosome where contiguous DNA segments overlap. Contig maps are important because they provide the ability to study a complete, and often large, segment of the genome by examining a series of overlapping clones which then provide an unbroken succession of information about that region. A contig map depicts the relative order of a linked library of small overlapping clones representing a complete chromosome segment.

The contiguous gene syndrome is due to deletion of multiple genes that are adjacent to one another. Contiguous gene syndromes are characterized by multiple, apparently unrelated, clinical features caused by deletion of the multiple adjacent genes. Each of the individual genes within a contiguous region, when mutated, gives rise to distinct features. An example of a contiguous gene syndrome is Angelman syndrome. It is due to the loss of a series of genes from a region of chromosome 15 termed 15q13-15. The syndrome is characterized by four cardinal features: severe developmental delay or mental retardation, severe speech impairment, gait ataxia and/or tremulousness of the limbs; and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly (abnormally small head) and seizures are common. In Angelman syndrome the genes that were lost prove always to have been from the mother. If they were from the father, an entirely different contiguous gene syndrome results called Prader-Willi syndrome.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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