sdatas from 1 68 patients of Growth and mental retardation.2.Our 297 CNVs ofhuman6 1 0-quad beadchip Can be grouped into four categories:(1)proximal and distalbreakpoint regions are enriched for LCRs with hi.gh sequence similarity(1 9/297;6.40%),(2)proximal and distal breakpoint regions ale enriched for LCRs,but withlow sequence similarity(53/297;1 7.85%),(3)only one breakpoint region harboursLCRs(80/297;26.94%)and(4)no LCR lies in the vicinity of bom breakpoints(1 45/297;48.8 1%).The results of the repeat sequence elements in breakpoint regionsand control sequences:Alu SINEs(breakpoint regions 3 1 4/504,62.30%;control338/504,67.06%);MIR SINEs(breakpoint regions 191/504,37.90%;control 207/504, ⅡI硕士学位论文 英文摘要41.07%);L1 LINEs(breakpoint regions 328/504,65.10%;control 344/504,68.25%);L2 LINEs(breakpoint regions 155/504,30.75%;control 171/504,33.93%);L3 LINEs(breakpoint regions 35/504,6.94%;control 37/504,7.34%);LTR(breakpoint regions266/504,52.78%;control 253/504,50.20%).Conclusions: 1.Established the Genomic Copy Number Variation Database of Growth andmental retardation.Data input by using this database is rapid,complete and reliable.Data query is convenient and convincing. 2.IIl 24.25%of these CNVs,both breakpoint regions carded LCRs,and in26.39%of these,their hi曲degree of sequence similarity identified NAHR as themost likely cause of these rearrangements.LCRs at only one of the two breakpoints,as detected in 80/297,and no LCR lies in the vicinity of both breakpoints,as detectedin 1 45/297 are unlikely to be involved in NAHR. 3.Genomic instability of Microsatellite repeats may be involved in theformation of CNVs.Genomic instability do not show any significant association诹mother repeaat elements. may be involved in the formation of LCRs/SDs. been suggested as a possible mechanism of CNV WAMP,LCRs/SDs,RepeatMasker,Repeat elements W硕士学位论文 目录 目 录中文摘要……………………………………………………………………………I英文摘要………………………………………………………………………。
Ⅲ第一章前言…………………………………………………………………1第二章全基因组拷贝数变异(CNV)数据库的建立………………3 2.1技术背景………………………………………………………..3 2.2实验方法………………………………………………………….1 O 2.3结果与分析………………………………………………………16 2.4讨论………………………………………………………………………………一20 结论……………………………………………………………………………………。
2 l第三章CNV序列特征分析…………………………………………。
22 3.1实验对象………………………………………………………22 3.2实验方法………………………………………………………22 3.3结果与分析……………………………………………………28 3.4讨论……………………………………………………………………………….34 结论……………………………………………………………………………………。
37参考文献………………………………………………………………………..38综述…………………………………………………………………………………………….40致谢…………………………………………………………………………………………….5 1个人简历………………………………………………………………………………..52 V硕士学位论文 第一章 第一章前言 基因拷贝数变异(copy number variation,CNV)【lJ是指在人类基因组中广泛存在的,从lkb(碱基对)到Mb范围内的缺失、插入、重复和复杂多位点的变异。
据估计,在基因表达的可遗传变异中基因拷贝数变异至少占17.7%,并且与许多疾病相关,如孤独症(autism),肾炎(glomerulonephritis)等。
CNVs主要通过两个方面的机制影响基因的表达:(1)直接通过剂量效应改变特定基因的表达量,造成基因微小缺失或微小复制,引起功能紊乱【21。
例如:Angelman综合征,DiGeorge综合征,Charcot-Marie.Tooth综合征等。
(2)影响基因转录调控因子,间接影响基因表达的量13巧】。
例如:阻遏子的片段缺失可导致基因转录活性的增强;启动子及邻近区域的片段重复可导致次稳定重排,降低基因表达的活性。
CNVs常发生在同源重复序列或DNA重复片段之内或之间的区域,通过非等位基因同源重组(non.allelic homologous recombination,NAHR)造成染色体结构重排造成,可引起CNVs。
普遍存在的重复序列能够促进我们基因组的不稳定和可突变性【6J,如低拷贝重
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