1、1.One characteristic of a mutation is that it is (4.0分)A.Almost an improvementB.Genetically transmitted to future generationsC.Always a dominant characteristicD.Prevented by using colchicine2.Contrasting genes at the same locus are called(4.0分) A.HomologusB.AllelesC.AlliesD.DifactorsE.Associates（等位基

2、因）3.某人的父親為Huntington舞蹈病患者，他現(xiàn)已30歲還未發(fā)病，如果30歲時此病的外顯率為30%，則他將來發(fā)病的可能性為（）。(4.0分)A.0%B.15%C.35%D.100%E.30%(患者的子代有1/2的概率患病，0.5*0.3=0.15，P78)4.Susan had retinoblastoma as a child. Her 1year-old daughter Cindy has just been found to have the same autosomal dominant condition. Susan is pregnant and concerned t

3、hat the new baby will also have retinoblastoma. Given that the penetrance of mutations in the causative gene, RB , is 90%, what is the risk that the baby will have this cancer?(4.0分)A.1%B.10%C.45%D.50%E.90%5.A 34-year-old woman presents to the emergency room with burning, stabbing, epigastric abdomi

4、nal pain. She reports nausea and vomiting over the past 24hours and states that she thinks that she may be pregnant. Urinalysis ispositive for ketones, WBCs, RBCs, and bacteria. Pregnancy test is positive. An abdominal CT reveals thromboses in the splenic, superior mesenteric, and left renal and por

5、tal veins. Further testing reveals a factor V Leiden mutation inone allele. There is no family history of thrombosis disorders in her family or her husbands family. Further analysis reveals a mutation in the mothers factor V Leiden gene; the father does not have the mutation. The patient is concerne

6、d about her pregnancy in light of these findings. What is the probability her child will be affected by factor V Leiden thrombophila?(4.0分)A.Virtually 0%B.25%C.50%D.75%E.100%（中英文版P160）6.多指癥為常染色體顯性遺傳病，如果其外顯率為60%，兩個雜合型患者婚后所生子女表型正常的概率為（）。(4.0分)A.30%B.20%C.55%D.50%E.15%（1/2 *0.4+0.25=0.45）7.Huntington舞蹈

7、病患者重復(fù)擴(kuò)增的三聯(lián)體是（）。(4.0分) P79A.CAGB.GCGC.CTGD.GAAE.CGG8.父親為A血型，母親為B血型，生育了1個B血型的孩子，如再生育，孩子可能的血型為（）。(4.0分)A.A和BB.B和ABC.A、B和ABD.A和ABE.A、B、AB和O9.一個男孩是甲型血友?。╔R）的患者，其父母和祖父母均正常，其親屬中不可能患此病的人是（）(4.0分)A.外祖父或舅父B.姨表兄弟C.姑姑D.同胞兄弟10.Your patient is a 5-year-old girl who appears to have Duchenne musculardystrophy. What

8、 is the most likely genetic explanation for this disease in a girl?(4.0分)A.She has a 46, XY karyotype with sex reversal.B.She has skewed X inactivation.C.She has two independentDMD mutations.D.She has a dominant negative mutation.E.This diagnosis is impossible.(XR,其中一條X染色體失活)11.Match the characteris

9、tics to the mode of inheritance.Elevated paternal age is characteristic(4.0分)A.Autosomal dominantB.Autosomal recessiveC.X-linked recessiveD.ChromosomalE.Polygenic（顯性遺傳病，父本年齡越高，突變率越大）12.Match the characteristics to the mode of inheritance.Parents with three affected children have a higher recurrence

10、risk than parents with two affected children(4.0分)A.Autosomal dominantB.Autosomal recessiveC.X-linked recessiveD.ChromosomalE.Polygenic(P113)13.Match the characteristics to the mode of inheritance.Elevated material age is characteristic(4.0分)A.Autosomal dominantB.Autosomal recessiveC.X-linked recess

11、iveD.ChromosomalE.Polygenic（母本年齡越高，越容易患染色體疾?。?4.Match the characteristics to the mode of inheritance.When male-to-male transmission is observed, this mode is unlikely(4.0分)A.Autosomal dominantB.Autosomal recessiveC.X-linked recessiveD.ChromosomalE.Polygenic15.Phenylketonuria (PKU) is an autosomal re

12、cessive disease that causesseveremental retardation if it is undetected. Two normal parents are told by their state neonatal screening program that their third child has PKU. Assume the initial screening is accurate and answer the questions below.What is the risk for their next child to have PKU?(4.

13、0分)A.100 %B.67%C.50%D.25%E.Virtually 016.Match the descriptions below with the appropriate term. A 90-year-old man with autosomal dominant neurofibromatosis has a son and grandson who died in their twenties from neural tumors(4.0分)（P95）A.Genetic heterogeneity(表型一致，可能又不同的基因型遺傳異質(zhì)性)B.Variable expressiv

14、ity（表現(xiàn)度）C.Germinal mosaicism（生殖系嵌合體雙親表型正常，孩子卻可能AD或XR）D.Nonrandom X inactivation（不隨機(jī)的X染色體失活）E.Incomplete penetrance（不完全外顯度）17.Match the descriptions below with the appropriate term.A albino couple has a normal child (albinism is an autosomal recessive disorder)(4.0分)A.Genetic heterogeneityB.Variable

15、expressivityC.Germinal mosaicismD.Nonrandom X iinactivationE.Incomplete penetrance18.Match the descriptions below with the appropriate term.A grandson and paternal grandfather have ectrodactyly ( autosomal dominant disorder with absent middle fingers), but the father has normal hands(4.0分)A.Genetic

16、heterogeneityB.Variable expressivityC.Germinal mosaicismD.Nonrandom X inactivationE.Incomplete penetrance19.Match the descriptions below with the appropriate term. A female carrier of hemophilia (X-linked disorder) has severe bleeding after routine cuts or abrasions(4.0分)A.Genetic heterogeneityB.Var

17、iable expressivityC.Germinal mosaicismD.Nonrandom X iinactivationE.Incomplete penetrance20.Which of the following prenatal diagnostic techniques routinely allows fetal chromosomes to be analyzed during first trimester of pregnancy?(4.0分)A.Cordocentesis（臍帶穿刺術(shù)17-32周）B.Ammiocentesis (羊膜腔穿刺技術(shù)16-18周)C.Ch

18、orionic villus sampling（絨毛取材術(shù)，9-12周）D.Radiography（X線攝影術(shù);）E.Maternal triple testing（母親的三重測試）21.A young couple both affected with classical achondroplasia come to you for genetic counseling. There is no other family history of achondroplasia. You should inform them that if they have a tull term live b

19、orn, the probabi1ity that the newborn wi11 not have achondroplasia （軟骨發(fā)育不全）if about:(4.0分)A.1%B.25%(老師給的答案)C.33%D.50%純和胚胎致死,孩子都不出來。哪來的患病率！我去。22.Many biochemical defects, which are inherited in a single-gene Mendelianfashion, have multiple effects upon the individual affected. This phenomenon is know

20、n as:(4.0分)A.phenocopyingB.pleiotropy（基因多效性）C.incomplete penetranceD.codominance23.Thus far, two genes have been found that can cause autosomal dominant breast cancer (one on chromosome 13 and one on chromosome17). This is best described as an example of:(4.0分)A.LinkageB.Allelic heterogeneityC.Linka

21、ge disequilibriumD.Locus heterogeneity24.Mutt and Jeff are two brothers who were born with congenital deafness. Their parents had normal hearing. Mutt married Mabel. Mabel was also congenitally deaf and her parents had normal hearing. Mutt and Mabel had 10 children (5 boys and 5 girls) all of whom w

22、ere born congenitally deaf. Jeff married Jane. Jane is not related to Mabel. Jane was congenitally deaf although her parents had normal hearing. Janes sister, Myrna, was also congenitally deaf. Jeff and Jane had 10 children (5 boys and 5 girls) none of whom were congenitally deaf. The probable explanation of the above pedigree is that:(4.0分)A.there is a single genetic locus with at least 2 different abnormal recessive alleles (a and b) which will result in congenital deafness when homozygous as either recessive aa, ab or bb.B.there are at least 2 different gene