Principles of Medical Genetics

affected individuals allele amino acid analysis approximately autosomal dominant autosomal recessive B-globin gene blood carrier cause cDNA chapter cholesterol chro chromo chromosome abnormalities clinical codon collagen congenital deficiency deletion detected disease gene disorders DNA sequence EcoRI encoded enzyme example exons factor VIII female fetal fetus frequency function G6PD gamete gene therapy genetic counseling genetic disease genotype germline hemoglobin hemophilia heterozygotes heterozygous homozygous human disease Human Genome hybridization identified inactivation indicated inherited introns LDL receptor linkage loci locus LOD score major male mapping marker maternal medical genetics meiosis molecular mosome mouse mRNA mutant allele mutations netic normal nucleotide occur offspring parents patients pattern pedigree phenotype polymorphic population prenatal diagnosis probe protein recombinant region result retinoblastoma risk screening shown in Figure sickle cell anemia somatic cell Southern blot specific syndrome thalassemia tion tissue trait transcription translocation trisomy tumor vector X chromosome X-linked