| palmal flexion crease | 掌褶线 | 135 |
| palmar print | 掌纹 | |
| paracentric inversion | 臂内倒位 | |
| Patau′s syndrome Patau | 综合征,13三体性 | |
| PCR | 聚合酶链反应 | |
| penetrance | 外显率 | |
| penicillamine | 青霉胺 | |
| pericertric inversion | 臂间倒位 | 16 |
| peripheral membrane protein | 外周膜蛋白 | 70 |
| pharmacogenetics | 药物遗传学 | 1,111 |
| phenotype | 表现型,表型 | 49 |
| phenylalanine ammonialyase | 苯丙酸氨基水解酶 | 142 |
| phenylalanine hyroxylase | 苯丙氨酸羟化酶 | 78 |
| phenylketouria | 苯酮尿症 | 78 |
| phosphoglucomutase | 磷酸葡萄变位酶 | 81 |
| phosphoribosyi pyrophosphate synthetase | 磷酸核糖焦磷酸合成酶 | 80 |
| physical mapping | 物理图谱 | 103 |
| physical map | 物理图 | 103 |
| placental aldaline phosphatase | 胎盘碱性磷酸酶 | 81 |
| plasmapheresis | 血浆过滤 | 143 |
| plasma thromboplastic antecedent(PTA)deficiency | 丙型血友病 | 73 |
| plasma thromboplastic component(PTA)deficiency | 乙型血友病 | 73 |
| point mutation | 点突变 | 43 |
| point polymorphism | 点多态 | 158 |
| polygenic disease | 多基因病 | 9,84 |
| inheritance | 多基因遗传 | 9,83 |
| disease | 多基因病 | 9 |
| polymerase Ⅰ,DNA | DNA聚合酶Ⅰ | 156 |
| polymerase chain reaction | 聚合酶链反应 | 161 |
| polymorphism,amplified fragment length | 扩增片段长度多态性 | 162 |
| polymorphism | 多态性,多态现象 | 20,80 |
| balanced | 平衡多态 | 96 |
| sinqle strand conformation | 单链构象多态 | 162 |
| polyneutitis | 多发性神经炎 | 112 |
| polyploidy | 多倍性 | 13 |
| polyprotein | 多蛋白质 | 38 |
| population | 群体 | 91 |
| genetics | 群体遗传学 | 1,91 |
| cytogenetics | 群体细胞遗传学 | 1 |
| porphyrias | 血卟啉症 | 114 |
| positional cloning | 位置克隆 | 3,108 |
| post-zygotic | 合子后 | 23 |
| posterior probability | 后概率 | 147 |
| post-transitional isozyme | 翻译后同工酶 | 81 |
| posttranslational processing | 翻译后修饰,翻译后加工 | 38 |
| pre-mRNA | 前信息核糖核酸 | 36 |
| predisposing gene | 易感基因 | 120 |
| pre-implantation diagnosis | 植入前诊断 | 132 |
| premutation | 前突变 | 30 |
| prenatal diagnosis | 产前诊断 | 3,130 |
| primer | 引物 | 161 |
| prior probability | 前概率 | 147 |
| probability,posterior | 后概率 | 147 |
| conditional | 条件概率 | 147 |
| prior | 前概率 | |
| probable carrier | 可能携带者 | 52 |
| probe | 探针 | 155 |
| proinsulin | 前胰岛素 | 38 |
| pormotor | 启动子 | 32 |
| proteinase inhibitor | 蛋白酶抑制剂 | 116 |
| protein C deficiency | 蛋白C缺乏症 | 74 |
| protein S deficiency | 蛋白S缺乏症 | 74 |
| proto-oncogene | 原癌基因 | 41,124 |
| pseudocholine esterase | 假胆碱酯酶 | 111 |
| pseudogene | 假基因 | 41 |
| pyropoikilocytosis | 热异形细胞增多症 | 71 |