簡(jiǎn)介:哈爾濱醫(yī)科大學(xué)普通教育醫(yī)學(xué)遺傳學(xué)哈爾濱醫(yī)科大學(xué)普通教育醫(yī)學(xué)遺傳學(xué)B試題試題年級(jí)年級(jí)2010級(jí)專業(yè)專業(yè)臨床藥學(xué)臨床藥學(xué)考試時(shí)間考試時(shí)間2011年7月7日哈爾濱醫(yī)科大學(xué)教務(wù)處監(jiān)制哈爾濱醫(yī)科大學(xué)教務(wù)處監(jiān)制第1頁(yè)共2頁(yè)一、單項(xiàng)選擇題(一、單項(xiàng)選擇題(5011分50分)分)1、癌癥屬于()A常染色體顯性遺傳病B常染色體隱性遺傳病CX連鎖病D體細(xì)胞遺傳病E線粒體病2、下列哪種個(gè)體同時(shí)具有X染色質(zhì)和Y染色質(zhì)()A46,XYB47,XYYC45,XD46,XXE47,XXY3、對(duì)于XR遺傳病,舅表兄妹的近婚系數(shù)F是。A1/8B1/16C3/16D1/64E04、真核基因的編碼序列為()A內(nèi)含子B外顯子C增強(qiáng)子D終止子E啟動(dòng)子5、RNA編輯的過程不包括()AU的加入B堿基轉(zhuǎn)換C加尾D堿基顛換EU的刪除6、脆性X染色體綜合征是由于X染色體CGG重復(fù)次數(shù)隨世代的傳遞而增加引起。這種情況稱為()A.錯(cuò)義突變;B.動(dòng)態(tài)突變;C.移碼突變;D.同義突變;E終止密碼突變7、哪種遺傳病為完全母系遺傳()A.AD;B.AR;C.Y連鎖;D.XD;E.線粒體病8、先天性聾啞為常染色體隱性遺傳病。一對(duì)聾啞夫婦,生育多個(gè)子女均正常。這種現(xiàn)象為()A.外顯不全;B.遺傳印記;C.基因多態(tài);D.基因多效性;E遺傳異質(zhì)性9、先天性聾啞為AR疾病。但部分嬰兒注射慶大霉素后也會(huì)表現(xiàn)為聾啞。此現(xiàn)象為()A.外顯不全;B.遺傳異質(zhì)性;C.不規(guī)則顯性;D.基因多效性;E擬表型10、臨床上最常見的遺傳病為A.AD病;B.多基因??;C.染色體??;D.AR??;E.體細(xì)胞遺傳病11、先天性髖關(guān)節(jié)脫位為多基因遺傳病,女孩明顯多于男孩,其比例大約為61,下列個(gè)體哪個(gè)發(fā)病風(fēng)險(xiǎn)高()A.女患者的兒子;B.男患者的女兒;C.女患者的女兒;D.男患者的兒子;E.無法判斷12、一對(duì)夫婦,血型均為A型,已經(jīng)生育了一個(gè)O型的孩子。則他們生育A型血子女的幾率為A.0;B.25;C.50;D.75;E.無法判斷13、6Q213代表()A.6號(hào)染色體短臂1區(qū)2帶3亞帶;B.6號(hào)染色體長(zhǎng)臂2區(qū)1帶3亞帶;C.6號(hào)染色體短臂21區(qū)3帶;D.3號(hào)染色體長(zhǎng)臂2區(qū)1帶9亞帶;E.3號(hào)染色體短臂2區(qū)1帶9亞帶14、92,XXYY產(chǎn)生的可能原因?yàn)椋ǎ〢.初級(jí)不分離;B.次級(jí)不分離;C.核內(nèi)復(fù)制;D.染色體丟失;E.雙雌受精15、下列哪種情況適合做染色體檢查()A.色盲;B.智力低下伴多發(fā)畸形患者;C.苯丙酮尿癥;D.白化?。籈.地中海貧血患者16、Α地中海貧血的發(fā)病機(jī)制是()A基因缺失B基因融合C易位D突變E雙雄受精17、在一個(gè)遺傳平衡群體中,軟骨發(fā)育不全AD發(fā)病率為00002,適合度為020,突變率為。A.1106/代;B.10106/代;C.20106/代;D.40106/代;E.80106/代18、下列哪個(gè)不是遺傳平衡群體()A.AA100AA0AA0.B.AA25AA50AA25.C.AA16AA35AA49.D.AA81AA18AA1.E.AA36AA48AA16.19、一個(gè)群體所具有的全部遺傳信息稱為A信息庫(kù)B基因庫(kù)C基因組D基因頻率E基因型頻率20、抗維生素D佝僂?。╔D)女性發(fā)病率為02,則男性發(fā)病率為()A.0;B.4;C.01;D.04;E.004、個(gè)體由于不同,對(duì)某一藥物可能產(chǎn)生不同的反應(yīng)。A.環(huán)境因子;B.身體素質(zhì);C.遺傳背景;D.生活習(xí)慣;E.服藥方法。22、BLOOM綜合征的主要表現(xiàn)為()A.唇腭裂;B.肝損傷;C.眼距寬;D.染色體不穩(wěn)定;E.溶血性黃疸23、下列哪種不屬于遺傳病的藥物治療()A.用大劑量維生素D治療抗VD佝僂?。籅.用低苯丙氨酸奶粉喂養(yǎng)苯丙酮尿癥患兒;C.用別嘌呤醇治療原發(fā)性痛風(fēng);D用雌激素治療TURNER綜合征;E.甲狀腺低下患者終生服用甲狀腺素24、PH染色體產(chǎn)生原因?yàn)椋ǎ〢.雙微體;B.9;22相互易位;C.14;21相互易位;D5號(hào)染色體短臂缺失;E.均質(zhì)染色區(qū)25、RB基因?yàn)椋ǎ〢.細(xì)胞癌基因;B.腫瘤抑制基因;C.DNA損傷修復(fù)基因;D病毒癌基因;E.細(xì)胞凋亡抑制基因26.下列哪個(gè)家庭唇裂的再發(fā)風(fēng)險(xiǎn)最低()。A夫婦正常,已生育兩個(gè)正常子女;B夫婦正常,已生育一個(gè)正常子女和一個(gè)唇裂子女;C夫婦正常,已生育兩個(gè)唇裂子女;D夫婦一方為唇裂患者,已生育一個(gè)正常子女和一個(gè)唇裂子女;E夫婦一方為唇裂患者,已生育兩個(gè)唇裂子女。27、XD病男性患者往往較女性患者癥狀嚴(yán)重,其原因?yàn)椋ǎ〢.?dāng)M表型;B.遺傳異質(zhì)性;C.交叉遺傳;D不完全顯性;E.劑量補(bǔ)償28、近親結(jié)婚的危害主要與下列哪種遺傳病有關(guān)()。A.多基因?。瓸.常染色體顯性.C.常染色體隱性.D.染色體病.E.X連鎖隱性.29、47,XX,18為()A.三體;B.缺失;C.單體;D易位;E.三倍體30、一位女性曾患精神分裂癥多基因病,群體發(fā)病率1?、遺傳率80?,其兒女的患精神分裂癥的風(fēng)險(xiǎn)是()。A.05.B.5.C.10.D.20.E.501、46,XX,R2P12Q21,表明2號(hào)染色體發(fā)生了()A易位;B缺失;C臂內(nèi)倒位;D臂間倒位;E環(huán)狀染色體。32、一定環(huán)境條件下,某種基因型個(gè)體能生存并能將他的基因傳給后代的能力,一般用相對(duì)生育率來衡量,是()A突變負(fù)荷B適合度C選擇系數(shù)D選擇負(fù)荷E分離負(fù)荷33、臨床上最常見的三體型是()。A.5號(hào)三體.B.13號(hào)三體C.18號(hào)三體D.21號(hào)三體E.X三體34、哪種核型表現(xiàn)為男性()A.47,XYY.B.47,XXX.C.47,XX,21.D.45,XX,14,21,T1421.E.46,XX/45,X.35、人群中的遺傳負(fù)荷主要決定于每個(gè)人攜帶的()。A.異常染色體的數(shù)量.B.AD有害基因的數(shù)量C.XR有害基因的數(shù)量.D.XD有害基因的數(shù)量.E.AR有害基因的數(shù)量.36、HUNTINGTIN舞蹈病基因CAGN在世代傳遞過程中,N發(fā)生改變的現(xiàn)象稱()。A.錯(cuò)義突變.B.移碼突變.C.無義突變.D.動(dòng)態(tài)突變.E.中性突變.37、下面哪條帶最遠(yuǎn)離染色體的著絲粒()。A.1P311B.1P221C.1P13D.1P121E.1P31338、異染色質(zhì)是指。A.螺旋化程度高,有轉(zhuǎn)錄活性的染色質(zhì).B.螺旋化程度低,有轉(zhuǎn)錄活性的染色質(zhì).C.螺旋化程度高,無轉(zhuǎn)錄活性的染色質(zhì).D.螺旋化程度低,無轉(zhuǎn)錄活性的染色質(zhì).E.異固縮的染色質(zhì).39、紅綠色盲為X連鎖隱性遺傳病,一個(gè)男子及其祖父和舅父均患此病,其他人表型均正常,該男子致病基因應(yīng)該來源于()。A.該男子的父親.B.該男子的祖母.C.該男子的祖父.D.該男子的外祖母.E.該男子的外祖父.40、下列那種疾病不適合進(jìn)行核型分析()。哈爾濱醫(yī)科大學(xué)教務(wù)處監(jiān)制哈爾濱醫(yī)科大學(xué)教務(wù)處監(jiān)制第2頁(yè)共2頁(yè)A.先天聾啞.B.兩性畸形.C.多次早期自然流產(chǎn).D.常規(guī)檢查未發(fā)現(xiàn)異常的不孕癥.E.多發(fā)畸形伴智力低下.41、一個(gè)核型為47,XX,21的母親生育有一個(gè)先天愚形患兒,這種情況被稱為()。A.雙雌受精.B.初級(jí)不分離.C.次級(jí)不分離.D.染色體重排.E.染色體丟失.42、一定條件下,某種基因型的個(gè)體能夠生存并能將基因傳遞給后代的能力是指()A.親緣系數(shù);B.近婚系數(shù);C.選擇系數(shù);D基因庫(kù);E.適合度43、性染色質(zhì)檢查可以對(duì)下列疾病進(jìn)行輔助診斷的是()。A.21三體綜合征.B.KLINEFILTER綜合征.C.18三體綜合征.D.苯丙酮尿癥.E.地中海貧血.44、下列哪個(gè)可以形成兼性異染色質(zhì)()A染色體著絲粒區(qū)域B染色體端粒區(qū)域C在肝細(xì)胞中胰島素基因所在的染色體區(qū)域D高度重復(fù)序列區(qū)域E染色體副縊痕區(qū)域45、下列哪種關(guān)系是一級(jí)親屬()A祖母與孫女B同父異母兄妹C夫妻D(zhuǎn)母女E姑姑和侄子46、某種AR病群體發(fā)病率為1/10000,致病基因突變率為60106/代,適合度為A.F04B.S04C.F06D.S02E.F0847、并指(AD)在某群體中的發(fā)病率為1/2000。在群體中多為雜合體(AA)發(fā)病。致病基因頻率是A1/4000B1/3000C1/2000D1/1000E1/50048、我國(guó)漢族人群中PTC味盲占009,如果這是一個(gè)遺傳平衡群體,雜合子的頻率為A.020B.031C.042D.054E.08949、近親婚配后,子女從婚配雙方得到的祖先同一基因的概率,是()A近親系數(shù)B近婚系數(shù)C親緣系數(shù)D選擇系數(shù)E平均近婚系數(shù)50、MAFAN綜合征表現(xiàn)為晶狀體半脫位、脊柱側(cè)彎、主動(dòng)脈瘤等多種癥狀。這種現(xiàn)象為()A.外顯不全;B.遺傳異質(zhì)性;C.基因多態(tài);D.基因多效性;E遺傳印記二、多項(xiàng)選擇題(二、多項(xiàng)選擇題(2022分40分)分)51、抗維生素D佝僂?。╔D)男性發(fā)病率為1/20000,那么A致病基因頻率為1/20000B男性中致病基因型頻率為1/20000C女性發(fā)病率為男性2倍D女性發(fā)病率為男性1/20000E女性發(fā)病率小于男性52、下面哪些不是先天愚形患者的核型A.47,XXXY,21B.45,XY,14,21,T1421.C.45,XXXY,21.D.46,XXXY,14,T1421.E.46,XX/47,XX,21.53、下列哪些是四倍體的形成機(jī)制()。A.雙雄受精.B.雙雌受精.C.核內(nèi)復(fù)制.D.核內(nèi)有絲分裂.E.染色體不分離.54、鐮形細(xì)胞貧血?。℉BS)因是由于Β鏈基因第6位密碼子5?GAG3?變?yōu)??GTG3?,致使Β鏈第6位谷氨酸被纈氨酸取代,請(qǐng)問發(fā)生了什么突變()。A轉(zhuǎn)換B顛換C無義突變D錯(cuò)義突變E動(dòng)態(tài)突變.55、藥物治療遺傳病的策略是()A基因添加B基因修正C補(bǔ)其所缺D禁其所忌E去其所余.56、下列哪些因素可能影響群體的遺傳平衡。A.突變與選擇.B.隔離因素.C.性別因素.D.隨機(jī)遺傳漂變.E.遷移因素.57、PATAU綜合征47,XX(XY),13患者可能是由下列哪些因素引起的。A.第一次減數(shù)分裂不分離.B.第二次減數(shù)分裂不分離.C.減數(shù)分裂中發(fā)生染色體丟失.D.胚胎細(xì)胞染色體倒位.E.胚胎細(xì)胞有絲分裂中發(fā)生染色體丟失.58、癌基因擴(kuò)增,在染色體水平可以體現(xiàn)為()A染色體丟失B均質(zhì)染色區(qū)C染色體倒位D羅伯遜易位E出現(xiàn)大量雙微體.59、關(guān)于MTDNA錯(cuò)誤的觀點(diǎn)有()。A.母系遺傳.B.不會(huì)傳給兒子.C.高突變率.D.無修復(fù)系統(tǒng).E.父系遺傳.60、下列那些可以作為遺傳標(biāo)記A.微衛(wèi)星STR.B.小衛(wèi)星VNTR.C.核苷酸多態(tài)SNP.D.RFLP.E.ASO.61、MRNA加工過程不包括()A剪接B復(fù)制C戴帽D翻譯E加尾62、原癌基因的功能,不包括()ADNA損傷修復(fù)B生長(zhǎng)因子受體C腫瘤轉(zhuǎn)移抑制因子D轉(zhuǎn)錄因子E細(xì)胞凋亡調(diào)控因子63、遺傳負(fù)荷不包括()A突變負(fù)荷B遺傳漂變C隨機(jī)婚配D大規(guī)模遷E分離負(fù)荷64、一個(gè)遺傳平衡的群體中,AA的頻率是049則A.AA的頻率為009B.AA的頻率為028C.AA的頻率為042D.基因A的頻率為003E.基因A的頻率為0765、癌基因的激活機(jī)制()A基因突變B原癌基因的轉(zhuǎn)錄激活C基因擴(kuò)增D融合基因的產(chǎn)生E基因敲除66、真核細(xì)胞中,哪些結(jié)構(gòu)不含DNAA細(xì)胞核B核糖體C內(nèi)質(zhì)網(wǎng)D微絲E線粒體67、關(guān)于交叉遺傳不正確的為()A兒子的X染色體由父親傳來B女兒的X染色體由父母?jìng)鱽鞢男性的X染色體傳于兒子D男性的X染色體傳給女兒E兒子的X染色體由母親傳來68、以下哪些染色體病是由染色體數(shù)目畸變導(dǎo)致的()。A.貓叫綜合征B.先天愚形C.XXX綜合征D.TURNER綜合征E.KLINEFELTER綜合征69、父母的血型分別是O型和B型,生育一個(gè)O型血的孩子,他們?cè)俅紊?,后代的血型可能是()。A.O型.B.A型C.B型D.AB型E.無法判斷70、某患者核型為45,X/47,XXY,這種個(gè)體為()A四倍體B多倍體C嵌合體D兩性畸形E染色體易位三、計(jì)算題(三、計(jì)算題(110分10分)分)71、某男的叔叔患有苯丙酮尿癥(AR,群體發(fā)病率1/16900),他欲與自己的姑表妹結(jié)婚。請(qǐng)問⑴他們后代發(fā)生苯丙酮尿癥的幾率有多大⑵如果該男與無關(guān)個(gè)體結(jié)婚,后代發(fā)生苯丙酮尿癥的幾率有多大(請(qǐng)畫出正確、規(guī)范的系譜后再做答案,否則此題無分)
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