y染色体微缺失和单倍群对精子发生障碍的影响

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1、上海交通大学硕士学位论文中广泛分布，有9个单倍群中出现gr/gr缺失；b2/b3在单倍群N中分布较为集中；此外单倍群C、O3*有少量分布。AZFc全缺失也有较广的分布,但未发现与汉族男性精子发生障碍易感的Y染色体单倍群。结论通过本研究发现：Y染色体微缺失是引起男性生精功能障碍的重要分子遗传学因素，对于不明原因的生精功能障碍患者进行Y染色体微缺失的分子诊断有重要意义。gr/gr缺失、b2/b3缺失不能作为汉族男性生精功能障碍的危险因素，可能为Y染色体进化过程中所形成的多态性。AZFc全缺失是汉族男性精子发生障碍的危险因素。研究证实：SNaPshot可成功用于Y染色体单倍群分型研究，结果可靠，方便

2、快捷。汉族男性主要以单倍群O为主，而b2/b3缺失容易在单倍群N中发生。在汉族男性的单倍群中AZFc的三种缺失类型在实验组和对照组没有出现集中趋势，两组对比未发现明显差异的单倍群。本研究为初步阐明精子发生障碍的分子机制，预防子代出现Y染色体相关的遗传缺陷奠定基础。关键词：Y染色体微缺失，单倍群，精子发生，男性不育上海交通大学硕士学位论文EFFECTSOFYCHROMOSOMEMICRODELETION/HAPLOGROUPONSPERMATOGENETICFAILUREObjectiveAZFregionmicrodeletiononYchromosomelongarm(Yq)isoneoft

3、hecriticalgeneticfactorsinmaleinfertility,whichcouldleadtospermatogeneticfailure.However,theimpactandrelationshipbetweengenotypeandphenotypeofAZFdeletiononspermatogeneticfailurecannotbedetermined.AZFdeletionsoccurwithdifferentrateindifferentYchromosomebackgroundandtheoccurrenceofspermatogeneticarres

4、tdiffersfromdifferentpeople.SNaPshotisanewdevelopingmicro-sequencingtechnologywhichisusedintheresearchonAnthropologyrelatedwithYchromosome,andcanquicklytypeYchromosomehaplogroups.Inourstudy,theincidenceofYchromosomemicrodeletionswasscreenedinlargesamplessoastoclarifythedistributionofYqmicrodeletioni

5、nthesubjectsofspermatogeneticfailure.Secondly,therelationshipbetweenthewholeAZFcdeletionandpartialAZFcdeletionwithspermatogeneticarrestwasstudiedanddistributionofpartialAZFcdeletioninHanChinesepeoplewasevaluatedinordertorevealtheunknowngeneticriskfactorforspermatogenesisarrest.Thirdly,Ychromosomehap

6、logroupsweretypedwithSNaPshot,mini-sequencingtechnology,tostudytheeffectYchromosomedeletion/haplogrouponspermatogeneticarrest.上海交通大学硕士学位论文MaterialsandMethodsPartOneEffectofYchromosomemicrodeletionsonspermatogeneticfailure815maleswithidiopathicnon-obstructiveazoospermia(NOA),asexperimentalgroup,and30

7、1qualifiedspermdonorfromShanghaiHumanSpermBankascontrol.AccordingtotheguidelinesoftheEuropeanMolecularGeneticsQualityNetwork(EMQN)andtheEuropeanAcademyofAndrology(EAA),AZFa,b,cmicrodeletionregionweres