1. 生物資訊學概論 期末個人作業 - 案例學習集 生科三甲 499271480 黃于庭

2. Web exploration 1 Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Nova Scotia Niemann-Pick disease

9. Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease. Mutations in the SMPD1 gene cause Niemann-Pick disease types A and B. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as sphingomyelin. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals. Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease type C. The NPC1 gene provides instructions for producing a protein that is involved in the movement of cholesterol and lipids within cells. A deficiency of this protein leads to the abnormal storage of lipids within cells as seen in people with Niemann-Pick disease type C1. The NPC2 gene provides instructions to produce a protein that binds and transports cholesterol. Reduced or absent levels of this protein lead to the abnormal accumulation of lipids and cholesterol in the cells as seen in people with Niemann-Pick disease type C2. The exact functions of the NPC1 and NPC2 proteins are not fully understood

10. Web exploration 2 Genetic disorder – Sickle-cell anemia Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the haemoglobin gene. Individuals with one copy of the defunct gene display both normal and abnormal haemoglobin. This is an example of codominance.

17. Web exploration 3 RecQ helicase RecQ helicase is a family of helicase enzymes initially found in Escherichia coli that has been shown to be important in genome maintenance. They function through catalyzing the reaction ATP + H 2 O → ADP + P and thus driving the unwinding of paired DNA and translocating in the 3' to 5' direction. These enzymes can also drive the reaction NTP + H 2 O → NDP + P to drive the unwinding of either DNA or RNA.

24. Molecular clock 分析親緣性 The molecular clock (based on the molecular clock hypothesis (MCH)) is a technique in molecular evolution that uses fossil constraints and rates of molecular change to deduce the time in geologic history when two species or other taxa diverged. It is used to estimate the time of occurrence of events called speciation or radiation. The molecular data used for such calculations is usually nucleotide sequences for DNA or amino acid sequences for proteins. It is sometimes called a gene clock or evolutionary clock.

25. 找出五個不同物種的序列，進行多序列的比對。

33. Web exploration 4 Cystic fibrosis transmembrane conductance regulator Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that in humans is encoded by the CFTR gene. CFTR is an ABC transporter-class ion channel that transports chloride and thiocyanate ions across epithelial cell membranes. Mutations of the CFTR gene affect functioning of the chloride ion channels in these cell membranes, leading to cystic fibrosis and congenital absence of the vas deferens.

40. Web exploration 5 C-src tyrosine kinase c-Src tyrosine kinase also known as proto-oncogene c-Src, is a non-receptor tyrosine kinase protein that in humans is encoded by the SRC gene. It includes an SH2 domain, an SH3 domain, and a tyrosine kinase domain. This protein phosphorylates a carboxyl-terminus tyrosine residue on human Src, which acts as a negative regulatory site. An elevated level of activity of c-Src tyrosine kinase is suggested to be linked to cancer progression by promoting other signals.

45. Primary structure analysis

49. Secondary structure prediction

53. Tertiary structure prediction

55. Quaternary structure

57. http://www.biogem.org/ http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html http://en.wikipedia.org/wiki/RecQ_helicase http://en.wikipedia.org/wiki/CFTR http://en.wikipedia.org/wiki/Src_(gene) 參考資料