中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2013年
9期
767-770
,共4页
杨丽红%朱丽青%王莹宇%谢海啸%谢耀盛%金艳慧%王明山%陈必成%杨小丽
楊麗紅%硃麗青%王瑩宇%謝海嘯%謝耀盛%金豔慧%王明山%陳必成%楊小麗
양려홍%주려청%왕형우%사해소%사요성%금염혜%왕명산%진필성%양소려
蛋白C缺乏%突变%系谱%近亲%遗传
蛋白C缺乏%突變%繫譜%近親%遺傳
단백C결핍%돌변%계보%근친%유전
Protein C deficiency%Mutation%Pedigree%Consanguinity%Heredity
目的 探讨1个姨表近亲结婚遗传性蛋白C缺陷症家系的分子发病机制.方法 对先证者及其家系成员(共3代8人)进行血浆蛋白C活性(PC:A)、蛋白C抗原(PC:Ag)含量及其他凝血指标检测；PCR扩增先证者蛋白C基因的9个外显子及其侧翼序列,产物纯化后直接测序；发现突变位点,再对其家系成员进行该位点的突变检测.结果 先证者及其弟弟PC:A分别为20％和31％,PC:Ag分别为13.2％和18.9％,均明显降低；先证者及其弟弟蛋白C基因测序检出第7号外显子g.6128T＞G纯合错义突变导致Phe 139Val,其他家系成员均为Phe139Val杂合突变.结论 Phe 139Val纯合突变是该家系遗传性蛋白C缺陷症的分子发病机制,可能与先证者父母近亲婚配有关.
目的 探討1箇姨錶近親結婚遺傳性蛋白C缺陷癥傢繫的分子髮病機製.方法 對先證者及其傢繫成員(共3代8人)進行血漿蛋白C活性(PC:A)、蛋白C抗原(PC:Ag)含量及其他凝血指標檢測；PCR擴增先證者蛋白C基因的9箇外顯子及其側翼序列,產物純化後直接測序；髮現突變位點,再對其傢繫成員進行該位點的突變檢測.結果 先證者及其弟弟PC:A分彆為20％和31％,PC:Ag分彆為13.2％和18.9％,均明顯降低；先證者及其弟弟蛋白C基因測序檢齣第7號外顯子g.6128T＞G純閤錯義突變導緻Phe 139Val,其他傢繫成員均為Phe139Val雜閤突變.結論 Phe 139Val純閤突變是該傢繫遺傳性蛋白C缺陷癥的分子髮病機製,可能與先證者父母近親婚配有關.
목적 탐토1개이표근친결혼유전성단백C결함증가계적분자발병궤제.방법 대선증자급기가계성원(공3대8인)진행혈장단백C활성(PC:A)、단백C항원(PC:Ag)함량급기타응혈지표검측；PCR확증선증자단백C기인적9개외현자급기측익서렬,산물순화후직접측서；발현돌변위점,재대기가계성원진행해위점적돌변검측.결과 선증자급기제제PC:A분별위20％화31％,PC:Ag분별위13.2％화18.9％,균명현강저；선증자급기제제단백C기인측서검출제7호외현자g.6128T＞G순합착의돌변도치Phe 139Val,기타가계성원균위Phe139Val잡합돌변.결론 Phe 139Val순합돌변시해가계유전성단백C결함증적분자발병궤제,가능여선증자부모근친혼배유관.
Objective To analyze genetic mutation and explore its molecular pathogenesis for an hereditary protein C (PC)deficient consanguineous pedigree.Methods The pedigree included three generations and contained eight members.PC activity (PC:A),PC antigen (PC:Ag)and other coagulant parameters were detected for all family members.Protein C gene (PROC) include all the exons and intronexon boundaries were amplified by PCR for the proband,then analyzed by direct sequencing.Mutation sites were detected for the other family members.Results The PC:A and PC:Ag in the proband plasma were 20％ (normal range 70％-140％) and 13.2％ (normal range 70％-130％).A homozygous missense mutation g.6128T＞G in exon 7 resulting in Phe 139Val was identified in the proband.The PC:A and PC:Ag in her younger brother were 31％ and 18.90％,Phe139Val homozygous was also found.The left family members were heterozygous for Phe139Val.Conclusion Phe139Val homozygous missense mutation in exon 7 of PROC caused serious hereditary protein C deficiency.We speculated that homozygous mutation might be resulted from this consanguineous marriage.
