/Applications of Genetics in Endocrinology/The Human Genome

Chapter 7 – Applications of Genetics in Endocrinology

J. Larry Jameson,
Peter Kopp

The Human Genome

		Autosomal-Dominant Disorders
		Autosomal-Recessive Disorders
		X-Linked Disorders
		Y-Linked Disorders

		Detection of Mutations
		High-Throughput Sequencing Technologies
		Functional Studies of Mutant Hormones and Receptors

		Approach to the Patient
		Genetic Endocrine Disorders
		Hormone Mutations
		Binding Protein Mutations
		Membrane Receptor Mutations
		Signaling Pathway Mutations
		Nuclear Receptor Mutations
		Transcription Factor Mutations
		Endocrine Syndromes
		Defects in Hormone Synthesis
		Defects in Channels

The Human Genome

Coinciding with the 50th anniversary of the description of the DNA double helix by Watson and Crick in 1953, the …