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Fitzpatrick's Dermatology in General Medicine, 7e
| Part 1. Introduction > Section 3: Overview of Biology, Development, and Structure of Skin > |
Chapter 8. Genetics in Relation to the Skin
Sections: The Human Genome in Dermatology, The Human Genome, Genetic and Genomic Databases, Chromosome and Gene Structure, Gene Expression, Finding Disease Genes, Gene Mutations and Polymorphisms, Mendelian Disorders, Chromosomal Disorders, Mitochondrial Disorders, Complex Trait Genetics, Mosaicism, Epigenetics, Histocompatibility Antigen Disease Association, Genetic Counseling, Prenatal Diagnosis, Gene Therapy, References.
Topics Discussed: skin.
Excerpt:
"In the 30 years since the first human gene, placental lactogen,
was cloned in 1977, huge investments in time, money, and effort
have gone into disclosing the innermost workings of the human genome.
The Human Genome Project, which began in 1990, has led to sequence
information on more than 3 billion base pairs (bp) of DNA, with
identification of most of the estimated 25,000 genes in the entire
human genome.1 Although a few relatively small
gaps remain, the near completion of the entire sequence of the human
genome is having a huge impact on both the clinical practice of
genetics and on the strategies used to identify disease-associated
genes. Laborious positional cloning approaches and traditional functional
studies are gradually being transformed by the emergence of new
genomic and proteomic databases.2 Some of the exciting
challenges that clinicians and geneticists now face are determining
the function of these genes and defining disease associations, and,
with relevance to patients, correlating genotype with phenotype.
Nevertheless, many discoveries are already influencing how clinical genetics
is practiced throughout the world, particularly for patients and
families with rare, monogenic inherited disorders...."
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