[{"data":1,"prerenderedAt":65},["ShallowReactive",2],{"q-nurse-113-1-basic-medicine-030":3},{"subject":4,"subjectSlug":5,"subjectFullName":6,"question":7,"related":35,"lastmod":64},"基礎醫學","basic-medicine","基礎醫學(包括解剖學、生理學、病理學、藥理學、微生物學與免疫學)",{"id":8,"webId":9,"year":10,"session":11,"subject":4,"number":12,"stem":13,"options":14,"answer":19,"answerNote":20,"images":21,"explanation":22,"explanationDeep":23,"topics":24,"freq":27},"nurse-113-1-基礎醫學-030","nurse-113-1-basic-medicine-030",113,1,30,"侏儒症中最常見的原因是軟骨發育不全（achondroplasia），而軟骨發育不全為體染色體顯性遺傳疾病。約 90%的病人與下列那一個基因突變有關？",{"A":15,"B":16,"C":17,"D":18},"Fibroblast growth factor receptor 3基因","Fibrillin-1基因","NF-1基因","TCIRG1基因","A",null,[],"本題考點在於軟骨發育不全症的致病基因。依遺傳學，軟骨發育不全（achondroplasia）為體染色體顯性疾病，約 90% 以上由 FGFR3（纖維母細胞生長因子受體 3）基因突變引起，此突變使受體活性過強、抑制軟骨內骨化，導致長骨變短，故選 A。B Fibrillin-1 對應馬凡氏症候群、C NF-1 對應神經纖維瘤症第一型、D TCIRG1 對應嬰兒型骨質石化症，皆為不同疾病，故錯。","FGFR3 為負向調控軟骨生長的受體，achondroplasia 是「功能增益（gain-of-function）」突變（多為 G380R），持續活化下游訊號使生長板軟骨細胞增殖受抑，形成短肢型侏儒、額突、三叉手。父源高齡是新突變風險因子。對比記憶：FGFR3＝軟骨發育不全，Fibrillin-1＝Marfan，NF-1＝神經纖維瘤。",[25,28,31,33],{"term":26,"count":27},"軟骨發育不全",3,{"term":29,"count":30},"體染色體顯性",2,{"term":32,"count":11},"FGFR3",{"term":34,"count":11},"功能增益突變",[36,40,44,49,54,59],{"webId":37,"stem":38,"number":39,"year":10,"session":11},"nurse-113-1-basic-medicine-031","在治療慢性阻塞性肺病（COPD）的藥物中，下列何者可抑制乙醯膽鹼（ACh）受體，以減少黏液之分泌？",31,{"webId":41,"stem":42,"number":43,"year":10,"session":27},"nurse-113-3-basic-medicine-027","肝硬化（cirrhosis）會造成腹水（ascites）是和下列何種原因有關？",27,{"webId":45,"stem":46,"number":47,"year":48,"session":30},"nurse-114-2-basic-medicine-021","下列何種病灶的發炎反應形式與其他三種最不相同？",21,114,{"webId":50,"stem":51,"number":52,"year":53,"session":11},"nurse-106-1-basic-medicine-019","下列何者並非動作電位的特性？",19,106,{"webId":55,"stem":56,"number":57,"year":58,"session":11},"nurse-107-1-basic-medicine-063","下列何者為治療尿崩症的首選藥物？",63,107,{"webId":60,"stem":61,"number":62,"year":63,"session":30},"nurse-108-2-basic-medicine-017","如果細胞之中心體（centrosome）受到破壞，下列何項細胞活動將無法完成？",17,108,"2026-09-04",1788510749620]