| adenine | adenosine deaminase deficiency (ADA) | adenovirus | Alagille syndrome | allele |
| amino acids | animal model | antibody | antisense | apoptosis |
| ataxia-telangiectasia | Autoimmune Lymphoproliferative syndrome (ALPS) | autosomal dominant | autosome | bacteria |
| bacterial artificial chromosome | base pair | birth defect | bone marrow transplantation | BRCA1/ BRCA2 |
| cancer | candidate gene | carcinoma | carrier | cDNA library |
| cell | centimorgan | centromere | chromosome | cloning |
| codon | congenital | contig | craniosynostosis | cystic fibrosis |
| cytogenetic map | cytosine | deletion | deoxyribonucleic acid (DNA) | diabetes mellitus |
| diploid | DNA replication | DNA sequencing | dominant | double helix |
| duplication | electrophoresis | Ellis-van Creveld syndrome | enzyme | familial Mediterranean fever |
| gene | gene amplification | gene expression | gene mapping | gene pool |
| gene therapy | gene transfer | genetic code (ATCG) | genetic counseling | genetic map |
| genetic marker | genetic screening | genome | genotype | germ line |
| guanine | haploid | haploinsuficiency | hematopoietic stem cell | hemophilia |
| heterozygous | highly conserved sequence | Hirschsprung's disease | holoprosencephaly | homologous recombination |
| homozygous | human artificial chromosome (HAC) | Human Genome Project | human immunodeficiency virus (HIV) | acquired immundeficiency syndrome (AIDS) |
| Huntington's disease | hybridization | immunotherapy | in situ hybridization | inherited |
| insertion | intellectual property rights | intron | karyotype | knockout |