TAILIEUCHUNG - Chapter 062. Principles of Human Genetics (Part 13)

The Human DNA Sequence The complete DNA sequence of each chromosome provides the highest resolution physical map. The primary focus of the HGP was to obtain DNA sequence for the entire human genome as well as model organisms. Although the prospect of determining the complete sequence of the human genome seemed daunting several years ago, technical advances in DNA sequencing and bioinformatics led to the completion of a draft human sequence in June 2000, well in advance of the original goal year of 2003. High-quality reference sequences, completed in 2003, further closed gaps and reduced remaining ambiguities, and the HGP. | Chapter 062. Principles of Human Genetics Part 13 The Human DNA Sequence The complete DNA sequence of each chromosome provides the highest resolution physical map. The primary focus of the HGP was to obtain DNA sequence for the entire human genome as well as model organisms. Although the prospect of determining the complete sequence of the human genome seemed daunting several years ago technical advances in DNA sequencing and bioinformatics led to the completion of a draft human sequence in June 2000 well in advance of the original goal year of 2003. High-quality reference sequences completed in 2003 further closed gaps and reduced remaining ambiguities and the HGP announced the completion of the DNA sequence for the last of the human chromosomes in May 2006. In addition to the human genome the whole genomes of 2000 organisms have been sequenced partially or completely Genomes Online Database GOLD Table 62-1 . They include among others eukaryotes such as man and mouse S. cerevisiae C. elegans and D. melanogaster bacteria . E. coli and archeae viruses organelles mitochondriae chloroplasts and plants . Arabidopsis thaliana . This information together with technological advances and refinement of computational bioinformatics has led to a fast-paced transition from the study of single genes to whole genomes. The current directions arising from the HGP include among others 1 the comparison of entire genomes comparative genomics 2 the study of large-scale expression of RNAs functional genomics and proteins proteomics in order to detect differences between various tissues in health and disease 3 the characterization of the variation among individuals by establishing catalogues of sequence variations and SNPs HapMap project and 4 the identification of genes that play critical roles in the development of polygenic and multifactorial disorders. Ethical Issues Implicit in the HGP is the idea and hope that identifying disease-causing genes can lead to improvements in .

• Y học thường thức
• Principles of Human Genetics
• bệnh học và điều trị
• bài giảng bệnh học
• tài liệu y khoa
• Harrisons Internal Medicine
• Biological information
• Lecture Genetics
• Human genetics
• Modern genetic techniques
• Mendels principles
• Mendels principles of heredity