LEADER 05038nam 2200601Ia 450 001 996218292203316 005 20230607221528.0 010 $a1-281-32161-3 010 $a9786611321611 010 $a0-470-76007-9 010 $a0-470-75980-1 035 $a(CKB)1000000000402961 035 $a(EBL)351295 035 $a(OCoLC)298254454 035 $a(SSID)ssj0000204758 035 $a(PQKBManifestationID)11197096 035 $a(PQKBTitleCode)TC0000204758 035 $a(PQKBWorkID)10192115 035 $a(PQKB)11441279 035 $a(MiAaPQ)EBC351295 035 $a(EXLCZ)991000000000402961 100 $a20000214d2001 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aMolecular and genetic analysis of human traits$b[electronic resource] /$fGustavo Maroni 210 $aMalden, MA $cBlackwell Science$dc2001 215 $a1 online resource (296 p.) 300 $aDescription based upon print version of record. 311 $a0-632-04369-5 320 $aIncludes bibliographical references and index. 327 $aContents; PREFACE; CHAPTER 1 The Inheritance of Simple Mendelian Traits in Humans; DETECTING MENDELIAN INHERITANCE IN HUMANS; Test-Crosses and Pure Lines versus Pedigrees and Inferred Genotypes; Box 1.1 Early observations of Mendelian inheritance in humans; PATTERNS OF INHERITANCE AND EXAMPLES; Autosomal Dominant Traits; Autosomal Recessive Traits; X-Linked Recessive Traits; THE USE OF PEDIGREES TO PREDICT THE RESULTS OF MATINGS; Probability of Individual Genotypes; Probability of Group Outcomes; GATHERING DATA TO TEST THE MODE OF INHERITANCE OF A TRAIT 327 $aPooling Data from Many Families and Ascertainment ErrorsAscertainment errors in studies of dominant traits; Ascertainment errors in studies of recessive traits; INHERITANCE OF MULTIPLE TRAITS: INDEPENDENT ASSORTMENT AND LINKAGE; Determination of Linkage from Human Pedigrees; Genetic Recombination and LOD Scores; Informative and Noninformative Matings; Neutral Polymorphisms, Marker Loci, and Genetic Maps; Box 1.2 Internet sites; The use of protein products to define marker loci; The use of directly detected DNA differences as marker lod 327 $aEXAMPLE 1.1 Linkage of the Huntington's disease gene to an RFLPCONCLUSION; EXERCISES; REFERENCES; CHAPTER 2 Hereditary Traits That Do Not Show a Simple Mendelian Pattern; SINGLE-GENE TRAITS LACKING A SIMPLE MENDEUAN PATTERN; Variable Exprrssiviy and Incomplete Penetrance; Complementation; Phenocopies and Pleiotropy; QUANTITATIVE TRAITS; Multiple Alleles; Polygenic Inheritance; Major and Minor Genes; COMPLEX TRAITS; Epidemiological Analysis of Complex Traits; Liability; Family Clustering; Identical Twins; LOCALIZATION OF GENES RESPONSIBLE FOR COMPLEX AND QUANTITATIVE TRAITS 327 $aLinkage Analysis of Complex TraitsAffected Pedigree Member (APM) or Allele-Sharing Methods; Example 2.1. Familial psoriasis; Example 2.2. Familial breast cancer; Analysis of quantitative trait loci by allele-sharing methods; Example 2.3. Insulin-dependent diabetes mellitus; Example 2.4. Male homosexuality; Allelic Association; Example 2.5. Dyslexia; Candidate Gene; Example 2.6. Nonsyndromal autosomal recessive deafness; Example 2.7. Neuroticism and genes for serotonin metabolism; CONCLUSION: NATURE VERSUS NURTURE; EXERCISES; REFERENCES; CHAPTER 3 Genome Organization I 327 $aUNEXPRESSED DNA, REPETITIVE AND UNIQUE SEQUENCESClustered, Highly Repetitive Sequences; The main families of highly repetitive sequences; Example 3.1. The a family of highly repetitive DNA; Small-Cluster, Intermediately Repeated DNA; Minisatellite DNA; Microsatellite DNA; Dispersed, Intermediately Repeated Sequences; Viral retrotransposons; Nonviral retrotransposons: Alu, L1, and processed pseudogenes; Unique Sequence DNA; EXPRESSED DNA, GENES AND GENE FAMILIES; The Organization of RNA Polymerase I1 Genes: Intmns and Exons; Box 3.1. Internet sites; Example 3.2. Collagen 327 $aExample 3.3. Cystic fibrosis 330 $aMolecular and Genetic Analysis of Human Traits will address the science student human genetics market. Although incorporating two basic themes: how do we establish that a trait is hereditary, and how is the human genome organized, it will also address relevant clinical examples and key related ethical issues. New attractive features have been added, including a chapter project, and end of chapter exercises which rely on real data. Each chapter includes end of chapter exercises, and references. In-text examples and internet references are cited. Most figur 606 $aHuman genetics 606 $aMedical genetics 615 0$aHuman genetics. 615 0$aMedical genetics. 676 $a599.935 700 $aMaroni$b Gustavo$0870949 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a996218292203316 996 $aMolecular and genetic analysis of human traits$92002576 997 $aUNISA