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目的对1例先天性抗凝血酶(AT)缺陷症患者及其家系成员进行 AT 表型及基因突变检测。方法采用发色底物法和免疫比浊法分别检测先证者及其家系成员血浆 AT 活性(AT:A)和AT 抗原含量(AT:Ag),并采用 PCR 法对先证者 AT 基因的7个外显子及其侧翼内含子序列进行扩增,PCR 产物纯化后直接测序检测基因突变。结果先证者的 AT:Ag 正常,但 AT:A 为正常值的65%,表现为Ⅱ型 AT 缺陷,其 AT 基因外显子6区第13830位核苷酸发生了 G→A杂合突变,引起Arg393His 错义突变。同样突变也见于该家系其他3名成员。结论该家系成员的Ⅱ型 AT 缺陷由AT 基因 G13830A 杂合突变所致,可致血栓形成。
Objective To detect AT phenotype and gene mutation in patients with congenital antithrombin (AT) deficiency and their family members. Methods The plasma AT activity (AT: A) and AT antigen (AT: Ag) of probands and their family members were detected by chromogenic substrate assay and immunoturbidimetric assay respectively. The genotypes of AT gene Seven exons and their flanking intron sequences were amplified. PCR products were purified and sequenced directly to detect gene mutations. Results AT: Ag was normal, but AT: A was 65% of the normal value. It showed type Ⅱ AT deficiency. G → A heterozygous mutation occurred in nucleotide 13830 of region 6 of AT gene , Causing a missense mutation in Arg393His. The same mutation is found in the other three members of the family. Conclusion The type Ⅱ AT deficiency in this pedigree is caused by the heterozygous mutation of AT gene G13830A, which can cause thrombosis.