Chromosome 8

RECQL4 gene Length of DNA sequence- 6,544 Name of Protein Encoded by Gene- helicase, lymphoid-specific Length of Amino Acid Sequence Brief Description of Protein Function- Unwinds DNA to allow for transcription

Rothmund-Thomson Syndrome Symptoms and Characteristics- redness on the skinjuvenile cataractssaddle nose bone defectshair growth problemscalcium problems ear problems rash on the skin Who is affected?- Rothmund-Thomson Syndrome is genetic, rare, and only has about 300 reported cases. It affects males more than females slightly, with a 2:1 ratio. Most cases are of very young children. If both parents have this syndrome, there’s a 100% chance the child(ren) will receive the mutated genes. Outlook or quality of life- The condition can be treated to a large extent, and children with RTS can have a normal quality of life.

Citations "Chromosome 8 (human)." Wikipedia. Wikimedia Foundation, n.d. Web. Feb "Lymphoid-specific Helicase Isoform 9 [Homo Sapiens]." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. Feb "Genes and Mapped Phenotypes." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. Feb "Rothmund-Thomson Syndrome." Genetics Home Reference. N.p., n.d. Web. Feb "Rothmund–Thomson Syndrome." Wikipedia. Wikimedia Foundation, n.d. Web. 27 Mar "Rothmund Thomson Syndrome (RTS)." DoveMed. N.p., n.d. Web. 27 Mar