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Consanguinity, Inbreeding, and Genetic Drift in Italy (MPB-39) : Monographs in Population Biology - Luigi Luca Cavalli-Sforza

Consanguinity, Inbreeding, and Genetic Drift in Italy (MPB-39)

Monographs in Population Biology

Paperback Published: 11th April 2004
ISBN: 9780691089928
Number Of Pages: 328

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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 Bookp. 1
Introductionp. 1
History of This Researchp. 4
Consanguinityp. 9
Inbreeding Measurementp. 11
Inbreeding Effectsp. 13
Random Genetic Driftp. 18
Research on Drift in the Parma Valleyp. 20
Genetic Uses of Surnamesp. 21
A Summary of Published Studies on Consanguinity and Inbreeding, with Special Reference to Italyp. 24
Structure of This Bookp. 26
Customs and Legislation Affecting Consanguineous Marriages, with Special Attention to the Catholic Churchp. 29
Early and Medieval Christian Traditionp. 29
Traditional Methods of Consanguinity Evaluation: The Roman and the German Methodsp. 34
Justifications of the Dispensation Requestp. 35
Demographic Factors Affecting the Frequencies of Consanguineous Marriage-A Study in Northern Emiliap. 39
Nature and Interest of the Problemp. 39
Relations to Population Structurep. 40
Number of Sibs, Distribution of Family Sizes, and Observed Abundance of Relativesp. 43
Consanguinity Degrees and Observed Numbers of Consanguinity Dispensations in Northern Emiliap. 47
Pedigree Types, Pedigree Codes, and Proofs of the Influence of Age at Marriage and of the Sex of Intermediate Ancestorsp. 52
Probability of Consanguineous Marriagesp. 69
Theory of Age Effects on the Frequency of Consanguineous Marriagesp. 69
Migration as a Factor Affecting the Frequency of Consanguineous Marriagesp. 76
The Role of Women in Maintaining Family Ties among Relativesp. 78
Observed and Expected Frequencies of Major Consanguinity Degreesp. 83
Consanguinity, Inbreeding, and Observed Genetic Drift in the Parma Valleyp. 90
The Parma Valley and the Origin of This Investigationp. 90
Geography of the Parma Valleyp. 91
Consanguinity and Inbreeding in the Parma Valleyp. 95
Blood Groups and Genetic Driftp. 101
Surnames and Genetic Driftp. 115
Correlations of Inbreeding and Driftp. 118
A Computer Simulation of the Upper Parma Valley Populationp. 122
The Need for a Population Simulationp. 122
Structure of the Simulationp. 123
The Migration Matrixp. 129
Is Drift the Only Cause of Genetic Variation in the Parma Valley?p. 134
Expected and Observed Consanguinityp. 142
Islandsp. 149
Italian Islandsp. 149
Sardiniap. 149
Sicilyp. 175
Aeolian Islandsp. 183
Effects of Inbreeding on Normal and Pathological Phenotypesp. 192
Introductionp. 192
Normal Quantitative Phenotypes: Stature and Chest Girthp. 193
Mortality, Fertility, and Sterilityp. 196
Incidence of Disease Groups from Surveys of Hospital Populationsp. 199
Study of Specific Recessive Diseasesp. 204
Consanguineous Marriages in Italy: Data from the Vatican Archivesp. 211
Introductionp. 211
Variations of Consanguinity over Timep. 212
Geographical Variations: Provinces and Regionsp. 214
Space-Time Analysis: Four Models of Declining Consanguinity in Italian Regionsp. 215
Factors Responsible for Space and Time Differences in Consanguinity: Choice of Variables and Their Meaningp. 222
Demographic Variables: Birthrate, Death Rate, and Demographic Transitionp. 223
Effect on Consanguinity of Environmental Variables of Socioeconomic and Ecological Meaningp. 229
An Attempt at a General Synthesisp. 237
Geography of Demes in Italyp. 242
Population Samplingp. 242
Random Mating, Mendelian Populations, and Demesp. 246
Comparing Genetic and Demographic Approaches to the Study of Demesp. 252
Are comuni (Communes) Demes?p. 260
The Negative Correlation Between N and mp. 263
Using Surnames for Evaluating Driftp. 267
A Drift Map of Italy by Communesp. 274
Statistical Observations on the Italian Drift Mapp. 280
Conclusionsp. 284
Human Consanguinityp. 284
Inbreedingp. 291
Genetic Driftp. 293
Demes, Isolates, and Migrationp. 298
Bibliographyp. 303
Indexp. 313
Table of Contents provided by Publisher. All Rights Reserved.

ISBN: 9780691089928
ISBN-10: 0691089922
Series: Monographs in Population Biology
Audience: Tertiary; University or College
Format: Paperback
Language: English
Number Of Pages: 328
Published: 11th April 2004
Publisher: Princeton University Press
Country of Publication: US
Dimensions (cm): 20.96 x 13.34  x 2.54
Weight (kg): 0.37