2015遗传学的一些基本概念.pptVIP

Tutorial #1 by Ma’ayan Fishelson Changes made by Anna Tzemach Genetic Information Gene – basic unit of genetic information. Genes determine the inherited characters. Genome – the collection of genetic information. Chromosomes – storage units of genes. DNA - is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life Chromosome Logical Structure Locus – location of a gene/marker on the chromosome. Allele – one variant form of a gene/marker at a particular locus. Human Genome Most human cells contain 46 chromosomes: 2 sex chromosomes (X,Y): XY – in males. XX – in females. 22 pairs of chromosomes named autosomes. Genotypes Phenotypes At each locus (except for sex chromosomes) there are 2 genes. These constitute the individual’s genotype at the locus. The expression of a genotype is termed a phenotype. For example, hair color, weight, or the presence or absence of a disease. Genotypes Phenotypes (example)  Eb- dominant allele. Ew- recessive allele. Dominant vs. Recessive One Locus Inheritance Mendel’s 1st Law Calculating Probabilities We want to predict patterns of inheritance of traits and diseases in pedigrees. E.g., we want to know the likelihood that a dog chosen at random from the study population will have blue eyes. Mendel’s 2nd Law Different gene pairs assort independently in gamete formation. Medical Genetics When studying rare disorders, 6 general patterns of inheritance are observed: Autosomal recessive Autosomal dominant X-linked recessive X-linked dominant Codominant Mitochondrial Medical Genetics (cont.) Autosomal recessive The disease appears in male and female children of unaffected parents. e.g., cystic fibrosis Medical Genetics (cont.) Autosomal dominant Affected males and females appear in each generation of the pedigree. Affected mothers and fathers transmit the phenotype to both sons and daughters. e.g., Huntington disease. Medical Ge