問題詳情

77.下列何者是帕比隆雷佛利症候群(Papillon-Lefèvre syndrome)病患的遺傳性障礙?
(A)白血球細胞黏附(adhesion)功能缺損
(B)非特異性組織鹼性磷酸酶(tissue-nonspecific ALP)缺乏
(C)蛋白酶C活性變異(mutation)
(D)第21號染色體具三套染色體綜合症(trisomy 21)

參考答案

答案:C
難度:計算中-1
書單:沒有書單,新增

用户評論

Yang Yeh】評論

題幹 摘錄自Caranza Ch5 p69Papillon-Lefevre syndrome (PLS) is one example of a condition that causes severe periodontitis as one of its manifestations. PLS is an autosomal-recessive disorder caused by mutations in the cathepsin C gene located on chromosome 11q14.7 The clinical manifestations of the syndrome include severe aggressive periodontitis and diffuse keratoderma on the palms,the soles,the knees,or all three