Methodology for Family Studies of Genetic Factors
İÇİNDEKİLERCONTENTS 1. Introduction............................ 2. Some fundamental definitions.................... 3. Segregation analysis........................ 3.1 Segregation frequency..................... 3.2 Frequency of sporadic cases.................. 3.3 Probability of ascertainment.................. 4. Parameters of population structure ................. 4.1 Coefficients of inbreeding and kinship.............. 4.2 Determination of inbreeding coefficients............. 4.3 Use of inbreeding coefficients in genetic analysis......... 4.4 The genetic load ....................... 5. Inbreeding and migration...................... 6. Estimation of linkage in human data................ 6.1 The value of linkage in human genetics............. 6.2 The recognition of the heterozygous state and other applications to genetic counselling ...................... 7. The problem of carrier detection.................. 7.1 Ways of detecting carriers................... 7.2 Probability aspects of carrier detection ............. 8. Recurrence risks.......................... 8.1 Estimation of the risk..................... 8.1.1 Traits that are determined by one or more recognizable genes, and that follow Mendelian patterns of inheritance..... 8.1.2 Disorders that are discrete but do not follow a simple pattern of inheritance...................... 8.1.3 Disorders that are due to readily identifiable chromosomal anomalies ....................... 9. Gene frequencies ......................... 9.1 Nature and origin of genie variation.............. 9.2 Gene frequency estimates ................... 9.3 Relevance of genie variation to public health.......... 9.4 Variation in phenotypic proportion under different mating systems 9.5 Variation with place...................... 9.6 Variation with time...................... 10. The analysis of quantitative inheritance............... 10.1 Association with Mendelian traits............... 11. Demography and human population genetics............. 12. Record linking .......................... 13. Medico-legal applications of genetic data .............. 14. Processing of human genetics data ................. 15. Recommendations.........................  |
