| leukemia | library | linkage | locus | LOD score |
| lymphocyte | malformation | mapping | marker | melanoma |
| Mendel, Johann Gregor | Mendelian inheritance | messenger RNA (mRNA) | metaphase | microarray technology |
| microsatellite | mitochondrial DNA | monosomy | mouse model | multiple endocrine neoplasia, type 1 (MEN1) |
| mutation | neurofibromatosis | Niemann-Pick disease, type C (NPC) | non-coding DNA | non-directiveness |
| nonsense mutation | Northern blot | nucleotide | nucleus | oligo |
| oncogene | oncovirus | p53 | Parkinson's disease | patent |
| pedigree | peptide | phenotype | physical map | polydactyly |
| polymerase chain reaction (PCR) | polymorphism | positional cloning | primary immunodeficiency | primer |
| probe | promoter | pronucleus | prostate cancer | protease |
| protein | pseudogene | recessive | recombinant DNA | repressor |
| restriction enzymes | restriction fragment length polymorphism (RFLP) | retrovirus | ribonucleic acid (RNA) | ribosome |
| risk communication | sequence-tagged site (STS) | severe combined immunodeficiency (SCID) | sex chromosome | sex-linked |
| shotgun sequencing | sickle cell disease | single nucleotide polymorphisms (SNPs) | somatic cells | Southern blot |
| spectral karyotype (SKY) | substitution | suicide gene | syndrome | technology transfer |
| thymine | transgenic | translocation | trisomy | tumor suppressor gene |
| uracil | vector | Western blot | Wolfram syndrom | yeast artifical chromosome (YAC) |