2023年遗传学试卷(最新版)最全面精品资料Molecular and bioche.pdf

1.A few weeks after minor surgery,a 14-year-old boys routine laboratory testing reveals 0.4 mg/dl of direct bilirubin(直接胆红素)and 1.6 mg/dl of indirect bilirubin(间接胆红素).The sole physical finding is scleralicterus and noother abnormalities can be detected.What is the(10.0)A.Crigler-Najjar syndrome Type I 先天性葡萄糖醛酸转移酶缺乏症 B.Crigler-Najjar syndrome Type II C.Gilberts syndrome 吉伯特氏症候群 D.Rotors syndrome E.DubinJohnson syndrome 吉伯特（Gibert）氏病是一种先天性、非溶血性黄疸，它是由于肝细胞窦侧微绒毛对胆红素的摄取障碍所致 总胆红素：间接胆红素偏高，直接胆红素偏高，说明肝细胞性黄疸，肝细胞受到损害，肝功能减退，肝脏不能完全将间接胆红素转化为直接胆红素，同时肝内胆管受压引起了排泄障碍，直接胆红也不能完全排到胆道，同时有可能伴有急性黄疸型肝炎，慢性活动性肝炎，肝硬化，肝癌等疾病。直接胆红素：说明是由阻塞性黄疸造成的。间接胆红素：说明可能是溶血性黄疸造成的，直接胆红素升高也可能会有输血时血型不合，贫血等原因 在肝功能化验里，胆红素正常值范围如下：总胆红素1.71 17.1mol/L（0.1mg/dl 1.0mg/dl）直接胆红素03.42 mol/L（00.2mg/dl）间接胆红素 013.68mol/L（00.8mg/dl）2.Which of the following classes of lipoproteins(脂蛋白)results from the interaction of VLDL and lipoprotein lipase?(10.0)A.VLDL 极低密度脂蛋白 B.LDL 低密度脂蛋白 C.IDL D.HDL 高密度脂蛋白 E.Chylomicronremnant 3.Elevation of what substance is the likely cause of yellow skin in a hypothyroid adolescent?(10.0)什么物质的增多导致青少年黄皮肤 由于患者缺乏甲状腺激素，胡萝卜素不能转变为维生素 A，所以有胡萝卜素血症，皮肤显现黄白色 A.Carnitine 卡尼丁（肉毒碱）B.Carotene 胡萝卜素 C.Direct bilirubin 直接胆红素 D.Indirectbilirubin 间接胆红素 E.Total bilirubin 总胆红素 4.Deficiency of lysosomal a-1-4-and 1-6 glucosidase(acid maltase)is characteristic of which one of the following diseases?(10.0)A.Forbes disease 糖原沉积型 1,6 B.Pompes disease 型 1,4 C.Anderson disease 1,4-1,6 D.Taruis disease 肌磷酸果糖激酶 5.In what childhood disease does ammonia（氨气）reach dangerous levels in untreated cases(10.0)A.Diabetesmellitus B.Mediumchain acyl-CoA dehydrogenase deficiency C.VonGierkes disease D.OTCD E.Phenylketonuria 6.In what childhood disease do ketone bodies（酮体）reach dangerous levels in untreated cases?(10.0)A.Diabetes mellitus 糖尿病 丙酮含量的升高则显示患有糖尿病 B.Medium-chain acyl-CoA dehydrogenase deficiency 中链酰基辅酶 A脱氢酶缺乏症 脂肪酸氧化失调 C.Von Gierkes disease（GSD I a 型 糖原累积症）D.OTCD 鸟氨酸氨甲酰基转移酶缺陷症 该酶缺陷是人类尿素循环疾病中最常见的原因，可导致氨蓄积，引起严重的神经功能紊乱。E.Phenylketonuria 苯丙酮尿症 7.In what childhood disease does free fatty acids（游离脂肪酸）reach dangerous levels in untreated cases?(10.0)A.Diabetes mellitus B.Mediumchain acyl-CoA dehydrogenase deficiency C.Von Gierkes disease D.OTCD E.Phenylketonuria 8.In what childhood disease does phenylalanine（苯丙氨酸）reach dangerous levels in untreated cases?(10.0)A.Diabetesmellitus B.Mediumchain acyl-CoA dehydrogenase deficiency C.VonGierkes disease D.OTCD E.Phenylketonuria 9.What hormone stimulates hypertrophy and hyperplasia with an increase in organ function?(10.0)（过度肥大和器官功能的增生）A.Glucagon B.Insulin C.Thyronine D.Somatotropin E.Cortisol 10.What hormone facilitates conversion of protein to glycogen（糖原蛋白）?(10.0)A.Glucagon 胰高血糖素 B.Insulin 胰岛素 C.Thyronine甲状腺原氨酸 D.Somatotropin生长激素 E.Cortisol皮质醇