| 医学遗传学 | medical genetics |
| 白化病 | albinism |
| 断裂 | breakage |
| 癌家族 | cancer family |
| 肿瘤遗传学 | cancer genetics |
| 携带者，载体，载流子，带虫者 | carrier |
| 猫叫综合征 | cat cry syndrome |
| 着丝点,着丝粒 | centromere |
| 缺失 | deletion |
| 双雄受精 | diandry |
| 双雌受精 | digyny |
| 重复 | duplication |
| 18-三体综合征 | Edwards's syndrome |
| 核内复制 | endoreduplication |
| 优生学 | eugenics |
| 家族性癌 | familial carcinoma |
| 脆性部位 | fragile site |
| 脆性X染色体综合征 | fragile X syndrome |
| 融合基因 | fusion gene |
| 基因簇 | gene cluster |
| 基因诊断 | gene diagnosis |
| 基因频率 | gene frequency |
| 基因定位 | gene maping, gene assignment |
| 基因库 | gene pool |
| 基因治疗 | gene therapy |
| 遗传病流行学 | genetic epidemiology |
| 遗传负荷 | genetic load |
| 基因病 | genic disease |
| 基因型频率 | genotype frequency |
| 血红蛋白病 | hemoglobinopathy |
| 遗传病 | hereditary disease, inherited disease, genetic disease |
| 遗传性酶病 | hereditary enzympathy |
| 遗传 | heredity |
| 遗传率 | heritability |
| 人类生化遗传学 | human biochemical genetics |
| 人类细胞遗传学 | human cytogenetics |
| 人类分子遗传学 | human molecular genetics |
| 人类群体遗传学 | human population genetics |
| 先天性代谢缺陷 | inborn errors of metabolism |
| 倒位 | invertion |
| 等臂染色体 | isochromosome |
| 界标 | landmark |
| 易患性 | liability |
| 标记染色体 | marker chromosome |
| 医学遗传学 | medical genetics |
| 众数 | modal number |
| 分子病 | molecular disease |
| 单基因病 | monogenic disease |
| 嵌合体 | mosaic |
| 复等位基因 | multiple alleles |
| 负优生学 | negative eugenics |
| 核小体 | nucleosome |
| 原癌基因 | oncogene |
| 系谱 | pedigree |
| 多基因病 | polygenic disease |
| 多基因遗传 | polygenic inheritance |
| 正优生学 | positive eugenics |
| 产前诊断 | prenatal diagnosis |
| 主缢痕，初级缢痕 | primary constriction |
| 先证者 | proband |
| 相互易位 | reciprocal translocation |
| 卫星，随体 | satellite |
| 体细胞遗传学 | somatic cell genetics |
| 干系 | stem line |
| 结构畸变 | structural aberration |
| 端区(端粒) | telomere |
| 海洋性贫血 | thalassemia |