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In 1951, the geneticist Luigi Luca Cavalli-Sforza was teaching in Parma when a student--a priest named Antonio Moroni--told him about rich church records of demography and marriages between relatives. After convincing the Church to open its records, Cavalli-Sforza, Moroni, and Gianna Zei embarked on a landmark study that would last fifty years and cover all of Italy. This book assembles and analyzes the team's research for the first time.
Using blood testing as well as church records, the team investigated the frequency of consanguineous marriages and its use for estimating inbreeding and studying the relations between inbreeding and drift. They tested the importance of random genetic drift by studying population structure through demography of the last three centuries, using it to predict the spatial variation of frequencies of genetic markers. The authors find that drift-related genetic variation, including its stabilization by migration, is best predicted by computer simulation. They also analyze the usefulness and limits of the concept of deme for defining Mendelian populations. The genetic effect of consanguineous marriage on recessive genetic diseases and for the detection of dominance in metric characters are also studied.
Ultimately bringing together the many strands of their massive project, Cavalli-Sforza, Moroni, and Zei are able to map genetic drift in all of Italy's approximately 8,000 communes and to demonstrate the relationship between each locality's drift and various ecological and demographic factors. In terms of both methods and findings, their accomplishment is tremendously important for understanding human social structure and the genetic effects of drift and inbreeding.
[An] extraordinary book, packed with detailed information... A careful reading of this remarkable book will yield much more information. -- Walter Bodmer Nature
| Acknowledgments ix | |
| History of This Investigation and Structure of This Book | p. 1 |
| Introduction | p. 1 |
| History of This Research | p. 4 |
| Consanguinity | p. 9 |
| Inbreeding Measurement | p. 11 |
| Inbreeding Effects | p. 13 |
| Random Genetic Drift | p. 18 |
| Research on Drift in the Parma Valley | p. 20 |
| Genetic Uses of Surnames | p. 21 |
| A Summary of Published Studies on Consanguinity and Inbreeding, with Special Reference to Italy | p. 24 |
| Structure of This Book | p. 26 |
| Customs and Legislation Affecting Consanguineous Marriages, with Special Attention to the Catholic Church | p. 29 |
| Early and Medieval Christian Tradition | p. 29 |
| Traditional Methods of Consanguinity Evaluation: The Roman and the German Methods | p. 34 |
| Justifications of the Dispensation Request | p. 35 |
| Demographic Factors Affecting the Frequencies of Consanguineous Marriage-A Study in Northern Emilia | p. 39 |
| Nature and Interest of the Problem | p. 39 |
| Relations to Population Structure | p. 40 |
| Number of Sibs, Distribution of Family Sizes, and Observed Abundance of Relatives | p. 43 |
| Consanguinity Degrees and Observed Numbers of Consanguinity Dispensations in Northern Emilia | p. 47 |
| Pedigree Types, Pedigree Codes, and Proofs of the Influence of Age at Marriage and of the Sex of Intermediate Ancestors | p. 52 |
| Probability of Consanguineous Marriages | p. 69 |
| Theory of Age Effects on the Frequency of Consanguineous Marriages | p. 69 |
| Migration as a Factor Affecting the Frequency of Consanguineous Marriages | p. 76 |
| The Role of Women in Maintaining Family Ties among Relatives | p. 78 |
| Observed and Expected Frequencies of Major Consanguinity Degrees | p. 83 |
| Consanguinity, Inbreeding, and Observed Genetic Drift in the Parma Valley | p. 90 |
| The Parma Valley and the Origin of This Investigation | p. 90 |
| Geography of the Parma Valley | p. 91 |
| Consanguinity and Inbreeding in the Parma Valley | p. 95 |
| Blood Groups and Genetic Drift | p. 101 |
| Surnames and Genetic Drift | p. 115 |
| Correlations of Inbreeding and Drift | p. 118 |
| A Computer Simulation of the Upper Parma Valley Population | p. 122 |
| The Need for a Population Simulation | p. 122 |
| Structure of the Simulation | p. 123 |
| The Migration Matrix | p. 129 |
| Is Drift the Only Cause of Genetic Variation in the Parma Valley? | p. 134 |
| Expected and Observed Consanguinity | p. 142 |
| Islands | p. 149 |
| Italian Islands | p. 149 |
| Sardinia | p. 149 |
| Sicily | p. 175 |
| Aeolian Islands | p. 183 |
| Effects of Inbreeding on Normal and Pathological Phenotypes | p. 192 |
| Introduction | p. 192 |
| Normal Quantitative Phenotypes: Stature and Chest Girth | p. 193 |
| Mortality, Fertility, and Sterility | p. 196 |
| Incidence of Disease Groups from Surveys of Hospital Populations | p. 199 |
| Study of Specific Recessive Diseases | p. 204 |
| Consanguineous Marriages in Italy: Data from the Vatican Archives | p. 211 |
| Introduction | p. 211 |
| Variations of Consanguinity over Time | p. 212 |
| Geographical Variations: Provinces and Regions | p. 214 |
| Space-Time Analysis: Four Models of Declining Consanguinity in Italian Regions | p. 215 |
| Factors Responsible for Space and Time Differences in Consanguinity: Choice of Variables and Their Meaning | p. 222 |
| Demographic Variables: Birthrate, Death Rate, and Demographic Transition | p. 223 |
| Effect on Consanguinity of Environmental Variables of Socioeconomic and Ecological Meaning | p. 229 |
| An Attempt at a General Synthesis | p. 237 |
| Geography of Demes in Italy | p. 242 |
| Population Sampling | p. 242 |
| Random Mating, Mendelian Populations, and Demes | p. 246 |
| Comparing Genetic and Demographic Approaches to the Study of Demes | p. 252 |
| Are comuni (Communes) Demes? | p. 260 |
| The Negative Correlation Between N and m | p. 263 |
| Using Surnames for Evaluating Drift | p. 267 |
| A Drift Map of Italy by Communes | p. 274 |
| Statistical Observations on the Italian Drift Map | p. 280 |
| Conclusions | p. 284 |
| Human Consanguinity | p. 284 |
| Inbreeding | p. 291 |
| Genetic Drift | p. 293 |
| Demes, Isolates, and Migration | p. 298 |
| Bibliography | p. 303 |
| Index | p. 313 |
| Table of Contents provided by Publisher. All Rights Reserved. |
ISBN: 9780691089928
ISBN-10: 0691089922
Series: Monographs in Population Biology (Paperback)
Audience:
Tertiary; University or College
Format:
Paperback
Language:
English
Number Of Pages: 320
Published: 22nd March 2004
Dimensions (cm): 21.6 x 14.2
x 2.2
Weight (kg): 0.376