CHAPTER 1

Introduction

CHAPTER OBJECTIVES

• Review molecular genetics and associated terminology.
  
• Review Mendelian genetic principles.
  
• Define mutation and give examples of different types of mutations.
  
• Describe different inheritance patterns.

KEY TERMS

Allele

Amniocentesis

Aneuploidy

Autosomal dominant

Autosomes

Chorionic villus sampling (CVS)

Chromosomal aberration

Chromosome

Codon

Consanguinity

Degenerate

Deletion

Deoxyribonucleic acid (DNA)

Dominant

Down syndrome

Gene

Genomics

Germinal mutation

Hemizygous

Heterozygous

Homozygous

Inborn errors of metabolism

Inversion

Klinefelter syndrome

Locus

Mendelian genetics

Messenger ribonucleic acid (mRNA)

Mitochondrial chromosome

Monogenic

Monosomy

Mutation

Nondisjunction

Pedigree analysis

Polygenic

Polysomy

Recessive

Ribosomal RNA (rRNA)

Sex chromosome

Somatic mutation

Transcription

Transfer ribonucleic acids (tRNA)

Translation

Translocation

Trisomy

Truncated protein

Turner syndrome

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