题干

天使综合征(又称AS综合征)是一种由于患儿脑细胞中UBE3A蛋白含量缺乏导致的神经系统发育性疾病.研究发现,位于15号染色体上的UBE3A基因控制合成UBE3A蛋白.该基因在正常人脑组织中的表达活性与其有关:来自母方的UBE3A基因可正常表达,来自父方的该基因由于邻近的SNRPN基因产生的反义RNA干扰而无法表达,其过程如如图所示.请回答下列问题:

(1)UBE3A蛋白是泛素一蛋白酶体的核心组分之一,后者可特异性“标记”P53蛋白并使其降解.由此可知AS综合征患儿脑细胞中P53蛋白积累量较____ ,直接影响了神经元的功能.细胞内蛋白质降解的另一途径是通过____ (细胞器)来完成的.

(2)对绝大多数AS综合征患儿和正常人的UBE3A基因进行测序,相应部分碱基序列如下:

正常人:…TCAAGCAGCGGAAA…

患  者:…TCAAGCAACGGAAA…

由此判断,绝大多数AS综合征的致病机理是由于来自____ 方的UBE3A基因发生碱基对的____ 而导致翻译过程提前终止.

(3)研究表明,人体内非神经系统组织中的来自母方或父方的UBE3A基因都可以正常表达,只有在神经系统中才会发生UBE3A基因被抑制的现象,说明UBE3A基因的表达具有____性.

(4)动物体细胞中某对同源染色体多出一条的个体称为“三体”.“三体”的性原细胞在减数分裂过程中,三条同源染色体中任意配对的两条染色体分离时,另一条随机移向细胞任一极.

①现产前诊断出一个15号染色体“三体”受精卵,其余染色体均正常.该“三体”形成的原因是参与受精过程的____配子发生异常所致.

②如果该受精卵是由正常卵细胞和异常精子受精形成,并且可随机丢失其中一条染色体而完成胚胎发育,则发育成AS综合征患者的概率是____ (不考虑基因突变).

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请先阅读下面的短文,掌握其大意.然后在每小题所给的A,B,C,D四个选项中,选出可以填入空白处的最佳选项。

    Today some people call Amsterdam the "City of Bicycles" because it is a city which is flat and convenient(方便)for bicycles.

    In the 1960s, a group of cycling fans1an idea . They believed that it would be better for everybody if only bicycles were allowed in the city centre. They were2that this would help to save energy, reduce pollution and provide free public transport. The group painted hundreds of bicycles3and placed them in public places around Amsterdam for people to use.4was allowed to take them and use them for short journeys, whether he was a local or a foreigner, Wherever someone finished a journey, they would5the bike there for someone else to use. The problem was that it didn't work-thieves took all the bicycles6 weeks!

    7,more than thirty years later, the "white bike" is back in town-this time with a computer chip(芯片)to8 its every move! To take a bicycle, you have to put a special card inside. The new "White bike" is not white any more but is an unusual9with bright colours. The bikes are parked at special parking places and people who want to use them have to take them to another place that has enough room.

    There is already less traffic in central Amsterdam, 10 both locals and tourists have been using the white bikes. Thanks to the good ideas of lots of people, like the cycling fans in the 1960s, many people around the world have been enjoying city centre streets without cars for many years.