| α－fetoprotein | 甲胎蛋白 | 133 |
| α-thalassemia | 甲型地中海贫血 | 64 |
| abnormal hemoglobin | 异常血红蛋白 | 61 |
| ABO blood group | ABO血型 | 50 |
| acetyl-transferase | 乙酰化酶 | 11 |
| acetylcholine esterase | 乙酰胆碱酯酶 | 133 |
| achromatopsia | 全色盲 | 53 |
| additive effect | 累积效应 | 83 |
| addittive gene | 累加基因 | 83 |
| adenine | 腺嘌呤 | 34 |
| adenosine deaminase | 腺苷脱氨酶 | 46 |
| adenovirus-polylysine DNA-complex | 腺病毒多赖氨酸DNA复合体 | 169 |
| adult polycystic kidney diseade(APKD) | 成人多囊肾病 | 166 |
| affinity banding agent | 亲和结合剂 | 143 |
| agammaglobinemia | 无丙球蛋白血症 | 67 |
| albinism | 白化病 | 52，77 |
| alcohol dehydrogenase | 乙醇脱氢酶 | 115 |
| aldehyde dehydrogenase | 乙醛脱氢酶 | 115 |
| allele specific oligonucleotide | 等位特异性寡核苷酸 | 162 |
| α-globin gene cluster | α珠蛋白基因簇 | 60 |
| allopurinol | 别嘌呤醇 | 143 |
| alpecia,hereditary | 遗传性早秃 | 55 |
| alpha-thalassemia | α地中海贫血 | 64，164 |
| Alu family Alu | 家族 | 41 |
| amniocentasis | 羊膜穿刺 | 131 |
| Amp-FLP | 扩增片段长度多态性 | 162 |
| amplification | 扩增 | 161 |
| amplified fragment length polymorphism | 扩增片段长度多态性 | 162 |
| anaphase lag | 后期迟留 | 14 |
| ankyrin | 锚蛋白 | 70 |
| aneuploidy | 非整倍性，异倍性 | 13 |
| angiotensin converting enzting enzyme | 血管紧张素转化酶 | |
| angiotensinⅡ | 血管紧张素Ⅱ | 87 |
| angiotensinogen | 血管紧张素原 | 87 |
| antenatal diagnosis | 出生前诊断 | 130 |
| antihemophilic globulin | 抗血友病球蛋白 | 72 |
| antioncogene | 抗癌基因 | 125 |
| antiparallel | 反向平行排列 | 14 |
| antisense strand | 反义链 | 36 |
| antisense oligdeoxynucleotide | 反义寡核苷酸 | 167 |
| antisense technology | 反义技术 | 167 |
| antithrombin Ⅲ deficiency | 抗凝血酶Ⅲ缺乏症 | 73 |
| α-antitrypsin | α-抗胰蛋白酶 | 116 |
| arch | 弓形纹 | 134 |
| arch,tented loop | 蓬账弓形纹 | 134 |
| arylhdrocarbon hydroxylase | 芳烃羟化酶 | 116，120 |
| ASO | 等位特异性寡核苷酸 | 162，165 |
| association | 关联 | 6 |
| ataxia telangiectasia,AT | 毛细血管扩张性共济显性遗传 | 119 |
| autosomal dominance inheritance | 常染色体显性遗传 | 49 |
| recessive inheritance | 常染色体显性遗传 | 52 |
| axial triradius | 轴三叉 | 135 |
| 5′-azocytidine | 5氮胞苷 | 167 |
