Educational case of the issue

Eman A. Zaky

摘要

Choose what is true and what is false in the following MCQs.1. The following are caused by a defect in the mitochondrial DNA: a. Leigh disease b. Kearn–Sayer’s syndrome c. Myotonic dystrophy d. Leber congenital amaurosis e. Leber hereditary optic neuropathy2. About mitochondrial DNA: a. The sperm does not contain mitochondrial DNA b. It accounts for 10% of total human DNA c. It encodes a protein needed for oxidative phosphorylation d. Defect results in the formation of red ragged muscle e. The inheritance of mitochondrial disorder is similar to X-linked disorders3. About the offsprings of a female carrier of an X-linked recessive disorder and a normal male: a. Half of their children will symptomatic b. Half of their daughters will be symptomatic c. Half of their sons will be asymptomatic carriers d. Half of their daughters will be carriers e. Half of their sons will be symptomatic4. About restriction fragment length polymorphisms (RFLPs): a. They show individual variation b. They can be used to determine the position of specific genes c. They are produced by enzymes which cleave DNA at specific sites d. They can be used for prenatal diagnosis e. They do not have a known useful function5. Retinoblastoma: a. Is associated with loss of the short arm of chromosome 13 b. Is caused by mutation in the growth suppressor gene c. Is an autosomal dominant condition d. Is sporadic in the majority of unilateral cases e. Is inherited in the majority of bilateral cases6. About molecular genetic techniques include: a. Before RNA can be studied by PCR (polymerase chain reaction), it has to be translated into complementary DNA b. Western blotting is used to detect specific protein in a mixture of proteins c. Northern blotting is used to detect DNA sequence d. Southern blotting is primarily used to detect DNA sequence e. Gel electrophoresis is used in both Southern and Northern blottings7. Chromosomal abnormalities are found in the following conditions: a. Achondroplasia b. Myeloid leukaemia c. Sickle cell disease d. Cri-du-chat disease e. Patau syndrome8. Diseases associated with HLA-B8 include: a. Sjogren’s syndrome b. Multiple sclerosis c. Myasthenia gravis d. Insulin-dependent diabetes mellitus e. Graves disease9. In Turner’s syndrome: a. Premature cataract is common b. The cells contains 45 chromosomes c. The offspring have a 50% chance of inheriting the disease d. There is an increased risk of hypertension e. The patient is below the average height10. In Klinefelter’s syndrome: a. The karyotype is always 47XXY b. The extra chromosome comes from the mother germ cells c. There is an increased incidence of lens subluxation d. The patient is infertile e. There is an increased incidence of breast cancer11. With regard to the DNA structure: a. Adenine (A) and guanine (G) are purine bases b. Guanine (G) always pairs with thymidine (T) and adenine (A) with cytosine (C) c. Each DNA strand has a pentose-phosphate backbone with projecting bases d. There are 64 possible codons e. Each amino acid may be coded by more than one codon12. About cytoplasmic messenger RNA: a. It is mainly translated from nuclear DNA b. Has a larger molecular weight than heterogeneous RNA c. Contains uracil in place of thymine d. The sugar moiety is deoxyribose e. Is manufactured when the embryo is at the one cell stage13. Which of the following statements are true: a. Turner’s syndrome is usually due to non-disjunction in the spermatozoon b. Half the daughters of Turner’s syndrome are affected by the same condition c. Patients with XXY are infertile d. All daughters are carriers in X-linked dominant disease e. The recurrence rate for polygenetic conditions is 1–5%14. Which of the following are true: a. Proto-oncogenes regulate the normal cell division b. Mutated proto-oncogenes are associated with cancer c. Gene translocation can not transform proto-oncogenes d. Viral insertion can disrupt normal proto-oncogenes e. ras oncogenes are the most commonly observed oncogenes in human tumors15. In the human cell cycle: a. Cell division occurs in the S phase b. G1 precedes mitosis c. DNA synthesis occurs in G0 d. Vincristine acts on the M phase e. Methotrexate acts on the S phaseAnswers key.Question No. Answers1 a.

机译：在以下MCQs.1中选择对与错。以下是由线粒体DNA的缺陷引起的：利氏病b。 Kearn–Sayer综合征c。肌强直性营养不良d。莱伯先天性黑皮肤e。莱伯遗传性视神经病变2。关于线粒体DNA：精子不含线粒体DNA b。它占人类总DNA的10％。它编码氧化磷酸化所需的蛋白质d。缺陷导致形成红色的衣衫muscle的肌肉e。线粒体疾病的遗传与X连锁疾病相似。关于X连锁隐性疾病的女性携带者和正常男性的后代：他们的一半孩子会出现症状b。他们的女儿中有一半会出现症状。 d他们的儿子中有一半将是无症状携带者。他们的女儿中有一半将成为携带者。他们的儿子中有一半将有症状。关于限制性片段长度多态性（RFLP）：它们显示出个体差异b。它们可用于确定特定基因的位置。它们由在特定位点切割DNA的酶产生。它们可用于产前诊断e。它们没有已知的有用功能5。视网膜母细胞瘤：与染色体13b短臂的缺失有关。是由生长抑制基因c的突变引起的。是常染色体显性疾病d。在大多数单方面情况中都是零星的e。在大多数双边案件中都是继承的6。关于分子遗传学技术包括：在可以通过PCR（聚合酶链反应）研究RNA之前，必须将其翻译为互补DNA b。 Western印迹用于检测蛋白质混合物中的特定蛋白质c。 Northern印迹法用于检测DNA序列d。 Southern印迹法主要用于检测DNA序列e。凝胶电泳可用于Southern和Northern印迹7。在以下情况下发现染色体异常：软骨炎b。骨髓性白血病c。镰状细胞病d。暴牙病e。帕陶综合症8。与HLA-B8相关的疾病包括：干燥综合征b。多发性硬化症c。重症肌无力d。胰岛素依赖型糖尿病e。格雷夫斯病9。在特纳氏综合症中：过早的白内障很常见b。细胞含有45条染色体。后代有50％的机会遗传疾病d。高血压的风险增加e。病人低于平均身高10。在克氏病综合症中：核型始终为47XXY b。多余的染色体来自母生殖细胞c。晶状体半脱位的发生率增加。患者不孕e。乳腺癌的发病率增加11。关于DNA结构：腺嘌呤（A）和鸟嘌呤（G）是嘌呤碱基b。鸟嘌呤（G）总是与胸苷（T）配对，腺嘌呤（A）与胞嘧啶（C）配对c。每条DNA链都有一个带有突出碱基d的戊糖磷酸骨架。有64个可能的密码子。每个氨基酸可以由一个以上的密码子12编码。关于细胞质信使RNA：它主要是从核DNA b翻译而来的。比异质RNA c具有更大的分子量。包含尿嘧啶代替胸腺嘧啶d。糖部分是脱氧核糖e。当胚胎处于一个细胞阶段时被制造13。以下哪个陈述是正确的：特纳氏综合症通常是由于精子b的不分离所致。特纳氏综合症的一半女儿都受到相同条件的影响c。 XXY患者不孕d。所有女儿都是X连锁显性疾病e的携带者。多基因疾病的复发率为1–5％14。以下哪项是正确的：原癌基因调节正常的细胞分裂。原癌基因突变与癌症有关。基因易位不能转化原癌基因d。病毒插入会破坏正常的原癌基因e。 ras癌基因是人类肿瘤中最常见的癌基因15。在人类细胞周期中：细胞分裂发生在S期b。 G1先于有丝分裂c。 DNA合成发生在G0 d。长春新碱作用于M相e。甲氨蝶呤作用于S相答案键。

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