Titlebook: Diagnostic Genetic Testing; Core Concepts and th David Bourn Book 2022 The Editor(s) (if applicable) and The Author(s), under exclusive lic

Anguish

Technology and the Ambiguity of Productionnd sequencing approaches), the basics of Sanger sequencing are reviewed. The agreed universal system for mutation nomenclature is outlined. The central part of the chapter covers current uses of genome-scale sequencing. These include general mutation screening for rare disease and cancer, trio analy

Resistance

DAMP

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David BournExplores differing aspects of human genetics and genetic disorders.Covers the broader societal, ethical and philosophical aspects of diagnostic genetic testing.Written for everyone interested to learn

思鄉(xiāng)病

艦旗

土坯

Autosomal Dominant Inheritance and Huntington Disease,mal dominant disorder caused by a trinucleotide repeat expansion, which gives rise to a toxic gain of function. The dynamics of repeat expansions are touched on, and the relevant laboratory testing methods are described. A second condition, familial hypercholesterolaemia caused by . gene mutations,

Folklore

Autosomal Recessive Inheritance and Cystic Fibrosis,e disorder, and the mutation spectrum is described. The persistence of recessive conditions in a population is explained with reference to heterozygote advantage and founder effects. (These concepts, and that of penetrance, are explored further in a brief section on the recessive disorder hereditary

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