Medical genetics at a glance
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : D J Pritchard; Bruce R Korf
- ناشر : Osney Mead, OX ; Malden, Mass. : Blackwell Science
- چاپ و سال / کشور: 2003
- شابک / ISBN : 9780632063727
Description
Basic biology -- The cell -- The chromosomes -- DNA structure -- DNA replication -- RNA structure -- Production of messenger RNA -- Protein synthesis -- The cell cycle -- Gametogenesis -- Embryology -- Sexual differentiation -- The place of genetics in medicine -- Chromosomal aneuploidies -- Chromosome structural abnormalities -- Mendel's laws -- Autosomal dominant inheritance -- Autosomal recessive inheritance -- Intermediate inheritance -- Sex-related inheritance -- Congenital abnormalities -- Multifactorial threshold traits -- The common disorders of adult life -- Normal polymorphism -- Allele frequency -- Genetic linkage and disease association -- Mutagenesis and DNA repair -- Mutations -- The molecular biology of cancer -- Familial cancers -- Immunogenetics -- Overview of clinical and laboratory methods -- Pedigree construction -- Dysmorphology -- Twin studies -- Chromosome analysis and related diagnostic procedures -- Gene mapping -- Diagnostic applications of the human gene map -- Prenatal sampling -- Biochemical diagnosis -- DNA sequencing and related diagnostic procedures -- Southern blotting and related diagnostic procedures -- PCR amplification and related diagnostic procedures -- DNA profiling -- Risk assessment and genetic counselling -- Preventive genetics and gene therapy
