CAJ | 학술논문

目的对2个遗传性PS缺陷症家系进行临床表型诊断和基因突变检测.方法 PS:A测定采用发色底物法;TPS:Ag、FPS;Ag测定采用ELISA法;PS基因(PROS1基因)检测采用PCR方法对先证者PROS1基因的15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.结果先证者1的PS:A为48.6%,FPS:Ag为41 mg/L,TPS:Ag为136 mg/L,PROS1基因2号外显子在c.C121T位点发生杂合碱基替换,导致编码的PS蛋白存在Arg-1 Cys(R-1C)杂合错义突变.先证者2的PS:A为29.2%,FPS;Ag为26 mg/L,TPS:Ag为83 mg/L,PROSl基因14号外显子在c.C1687T位点发生杂合碱基替换,导致编码的PS蛋白存在Gln522Stop杂合无义突变.结论 c.C121T是PROS1基因的一个新的突变位点,该杂合突变可以导致Ⅱ型遗传性PS缺陷症;c.C1687T杂合突变导致Ⅰ型遗传性PS缺陷症.
목적 대2개유전성PS결함증가계진행림상표형진단화기인돌변검측.방법 PS:A측정채용발색저물법;TPS:Ag、FPS;Ag측정채용ELISA법;PS기인(PROS1기인)검측채용PCR방법 대선증자PROS1기인적15개외현자급기측익내함자서렬진행확증,PCR산물순화후직접측서.결과 선증자1적PS:A위48.6%,FPS:Ag위41 mg/L,TPS:Ag위136 mg/L,PROS1기인2호외현자재c.C121T위점발생잡합감기체환,도치편마적PS단백존재Arg-1 Cys(R-1C)잡합착의돌변.선증자2적PS:A위29.2%,FPS;Ag위26 mg/L,TPS:Ag위83 mg/L,PROSl기인14호외현자재c.C1687T위점발생잡합감기체환,도치편마적PS단백존재Gln522Stop잡합무의돌변.결론 c.C121T시PROS1기인적일개신적돌변위점,해잡합돌변가이도치Ⅱ형유전성PS결함증;c.C1687T잡합돌변도치Ⅰ형유전성PS결함증.
Objective To identify the clinical phenotypic diagnosis and gene mutation detection of two kindreds with PS deficiency. MethodsPS: A was measured by chromogenic substrate method;TPS:Ag, FPS: Ag levels were measured by ELISA method; PS gene(PROS1 gene)was detected by amplifying 15 exons and flanking intron sequences from the propositus with PCR method. PCR products were purified and directly sequenced. Results For propositus 1,PS: A was 48.6% ,TPS: Ag was 136 mg/L, FPS : Ag was 41 mg/L, PROSI gene exon 2 was in c. Heterozygous base substitutions was detected in C121T locus, which led to Arg-1Cys (R-1C) heterozygous roissense mutation encoded in PS proteins. For propositus 2, PS: A was 29.2%, TPS: Ag was 83 mg/L, FPS: Ag was 26 mg/L, PROSI gene exon 14 was in c. Heterozygous base substitutions was identified in CI687T locus, in which Gln.522Stop heterozygous nonsense mutation was encoded in PS proteins. Conclusions c. C121T is a novel mutation locus detected in PROS1 gene. This heterozygous mutation could lead to type Ⅱ PS hereditary deficiency, while c. C1687T heterozygous mutation could bring about type Ⅰ PS hereditary deficiency.