Human genetic diversity : functional consequences for health and disease / Julian C. Knight.

Format:

Book

Author/Creator:

Knight, Julian C.

Language:

English

Subjects (All):

Human genetics--Variation.

Human genetics.

Human molecular genetics.

Human evolution.

Physical Description:

1 online resource (501 p.)

Place of Publication:

Oxford ; New York : Oxford University Press, 2009.

Summary:

The secrets of our genetic heritage are finally being unlocked. The massive scientific effort to sequence the human genome is in fact just the beginning of a long journey as the extraordinary genetic diversity that exists between individuals becomes clear. Work in this field promises much: to understand our evolutionary origins, to define us as individuals, to predict our risk of disease and to more effectively understand, treat and prevent illness. Contemporary genetic research isallowing the basis of both rare inherited disorders and common multifactorial diseases like asthma and diabetes to

Contents:

Contents; Preface; Acknowledgements; 1 Lessons from haemoglobin; 1.1 Introduction; 1.2 Genetic variation and a molecular basis for disease; 1.2.1 A difference at the protein level between haemoglobin molecules; 1.2.2 Mendelian inheritance, alleles and traits; 1.2.3 Sequencing the HBB gene and defining the variant responsible for Hb S; 1.2.4 Methods of detecting the Hb S DNA sequence variant; 1.3 Genetic diversity involving the globin genes; 1.3.1 Structural variants of haemoglobin and the thalassaemias; 1.3.2 HBB sequence diversity and sickle cell disease

1.3.3 Transitions versus transversions1.3.4 Synonymous versus nonsynonymous changes; 1.3.5 Insertions or deletions may result in frameshift events; 1.3.6 Deletions, duplications, and copy number variation; 1.3.7 Gene fusion; 1.3.8 Sequence variation, RNA splicing, and RNA processing; 1.3.9 Sequence diversity in noncoding DNA modulating gene expression; 1.3.10 Tandem repeats; 1.3.11 Mobile DNA elements and chromosomal rearrangements; 1.3.12 Monosomy and trisomy of the terminal end of chromosome 16p; 1.4 Diversity across the genome; 1.4.1 Classifying genetic variation

1.4.2 Sequencing the human genome1.4.3 Repetitive DNA sequences are common; 1.4.4 Whose genome was sequenced?; 1.4.5 Resequencing diploid human genomes; 1.5 Summary; 1.6 Reviews; 2 Finding genes and specific genetic variants responsible for disease; 2.1 Introduction; 2.2 Linkage analysis; 2.2.1 Defining linkage; 2.2.2 Genetic markers; 2.3 Application of linkage analysis and positional cloning to mendelian diseases; 2.3.1 Cystic fibrosis and the delta-F508 mutation; 2.3.2 Treacher Collins syndrome; 2.3.3 Linkage disequilibrium mapping and mendelian disease

2.3.4 Allelic and genetic heterogeneity in mendelian diseases2.3.5 Linkage analysis and common disease; 2.4 Genetic association studies and common disease; 2.4.1 A small number of robustly demonstrated associations?; 2.4.2 Study design and statistical power; 2.4.3 Genetic admixture and association with disease; 2.4.4 TNF and candidate gene association studies; 2.5 Alzheimer's disease; 2.5.1 Early onset familial Alzheimer's disease: rare variants underlying a mendelian trait; 2.5.2 APOE ε4 and late onset Alzheimer's disease

2.6 Common and rare genetic variants associated with venous thrombosis2.6.1 Factor V Leiden; 2.6.2 Genetic diversity and thrombophilia: insights and applications; 2.7 Summary; 2.8 Reviews; 3 Cytogenetics and large scale structural genomic variation; 3.1 Introduction; 3.2 A historical perspective on cytogenetics; 3.3 Chromosomal diversity involving gain or loss of complete chromosomes; 3.3.1 Constitutional and somatic variation in chromosome number; 3.3.2 Chromosomal abnormalities and development; 3.3.3 Polyploidy; 3.3.4 Trisomy; 3.3.5 Monosomy; 3.4 Translocations

3.4.1 Reciprocal translocations

Notes:

Description based upon print version of record.

Includes bibliographical references and index.

Description based on print version record.

Description based on publisher supplied metadata and other sources.

ISBN:

0-19-922770-5

1-282-34911-2

9786612349119

0-19-157258-6

OCLC:

539207759