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α_1-抗胰蛋白酶(AAT)缺乏症是一常染色体隐性遗传病。尽管已鉴别出一定数量不同的 AAT 基因突变,但临床 AAT 缺乏症几乎总由 PI-Z 突变在AAT 基因外显子Ⅴ的342位密码子处有单个的碱基替换,把9989处的碱基 G 换为 A。纯合体引起。编码的氨基酸由谷氨酸(GAG)转变为赖氨酸(AAG)。通过 RFLP 连锁分析,寡核苷酸杂交、聚合酶链反应(PCR)技术及其它方法能够实现该病的产前诊断。应用化学裂解错配(CCM)法可直接检测突变,并已应用到检测 PI-Z 突变上。
Alpha-1 antitrypsin (AAT) deficiency is an autosomal recessive disease. Although a number of different AAT gene mutations have been identified, clinical AAT deficiency almost always consists of a single base substitution at the codon 342 of exon V of the AAT gene by a PI-Z mutation. The base at base 9989 G replaced by A. Homozygous caused. The encoded amino acid is converted from glutamic acid (GAG) to lysine (AAG). Prenatal diagnosis of the disease can be achieved by RFLP linkage analysis, oligonucleotide hybridization, polymerase chain reaction (PCR) techniques and other methods. Mutations can be detected directly using the chemical lysis mismatch (CCM) method and have been applied to detect PI-Z mutations.