男性不育病因-遗传学研究进展 (our contributions) Reproductive BioMedicine Cnllne (2012)25,627-634 J Assist Repmod Genet Genetic D01101007s108I5 J Assist Reprod Genet ELSEVIER Susceptil D01101007s10815-0140244x GENETICS BIOLOGY OF REPRODUCTION (2014)91(2):52.1-6 the Chin GENETICS ARTICLE D011D.10956 olreprod.114.120527 PRM1 var Association Genetic stud CREM Variants rs4934540 and rs2295415 Conferred Susceptibility to Nonobstructive Jian Ruan,MS Azoospermia Risk in the Chinese Population' with defe Yuan Zhou,N GTF2AIL azoospermia populatio Yun-Xia Cao in the Chir Xiao-lin He Bing Song Wei-Dong DuYun-Xia Cao,Yan Zhang"Jian Ruan,Hui Bing Song·Xiaojin H Tian,Fu-Sheng Zhou,Xian-Bo Zuo,Huan Wu,Xing Zha,Xu-Shi Xie,Zhao-Lian Wei Fusheng Zhou.Xian. and Ping Zhou..7 Xiao-Jin He a Yan Zhang.Xiao- Xu-shi Xie·LdYe,Z Yuan Zhou b,c Abstract Jian Ruan Fu-Sh Reproductive Medicine Center,The First Affiliated Hospital of Anhui Medical University,Hefei,China This study aimed Institute of Reproductive Medicine,Anhui Medical University,Hefei,China the Chinese Han Wei-Dong Du Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs,Hefei,China Reproductive Medic permia (NOA.n Received:3 March 2014/A Department of Biology,Anhui Medical University,Hefei,China Medical University,H nom iplex technol Springer Science+Busin State Key Laboratory incubation Base of Dermatology,Ministry of National Science and Technology.Anhui Medical Hefel 230032.China: University,Hefel,China Incubation Base of De 041,odds ratio [O Received:17 July 2014 Ching:*Sektion Expe haplotype AT of th Springer Science+B Abstract Reproductive Medicine Center,Yiishan Hospital of Wannan Medical University,China Corresponding authors 0.383-0.9901.The Purpose To evaluate Department of Cell and Developmental Biology,School of Life Sciences,University of Science and Technology of 1 The authors contribute China,Hefei,China OR=1.624.95 Hormad?single nucle Abstract the genetic risk fa with non-obstructive ABSTRACT Purpose To resear Icontrol Maturation arre population. cleotide polymorph To evaluate the association of variants related to spermato- Methods In the presen Keywords genesis with susceptibility to Chinese idiopathic nonobstructive related genes (US tide polymorphisms(S) azoospermia (NOA),seventeen tag single-nucleotide polymor. male infertility.TE phisms(SNPs)in CREM.ACT,KIF17b,and SPAG&were analyzed obstruction azoospe Sequenom iplex techno in 361 NOA patients and 368 controls by Sequenom iplex Meho达We invest mal controls from Chin technology.The results showed that two CREM SNPs,rs4934540 Results We observed n and rs22954152,were significantly associated with NOA and from the Chinese Introduction tion of allele frequencic played protective roles against the disease value with iplex technology to Bonferroni correction =0.00017,odds ratio [OR]0.624 and haplotype analysis also AbrCt Male-factor infert P=0.012,OR 0.686,respectively).Haplotype analysis of USFI.GTF2AIL an M1DM2Ta tween the two groups inferie problem CREM gene variants suggested that haplotype CGTG of the worldwideTh Resalts In this study distribution of rs71877 SNPs.f54934540,s2295415,s11592356,and51148247 cases with nonphs USFI was associate ent between the large exhibited sigificant protective effect against the occurenceof NOA (P=0.001,OR =0.659).The haplotype TATG conierred a 1.436)and the hap significantly increased risk of NOA (P =0.011,OR =1.317). Furthermore,making use of quantitative RT-PCR,we demon- Capne ondi and Fom strated that relative mRNA expression of CREM in NOA patients with maturation arrest was only one-third of that in the controls 柱tht脚n在 Bing Song and Xiaojin He with normal spermatogenesis (P 0.0001).Our findings indicated that the polymorphisms of CREM gene were associated with NOA in the Chinese population and low CREM expression might be involved in the pathogenesis of spermatogenesis maturation arrest
Am J Hum Genet 男性不育病因----遗传学研究进展（our contributions）
男性不育概述 ■预后因素： >不育年限； >是原发性还是继发性不育； >精液分析的结果； >女方的年龄和生育能力。 有不到5-10%的患者只能不情愿地接受不能生育的结局。 安擦滑得火磐第一附屠滑院 THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIVERSITY
男性不育概述 ◼ 预后因素 ： ➢不育年限； ➢是原发性还是继发性不育； ➢精液分析的结果； ➢女方的年龄和生育能力。 有不到5-10％的患者只能不情愿地接受不能生育的结局。 万科金色名郡
男性不育辅助检查 ■精液常规与形态学分析 (WHO2010) ■精浆生化检测 ■ 精子DNA检测 ■性激素检测 ■男科超声检测 ■睾丸组织检查 ■ 遗传学检查 安强奇得火磐第一附屠器院 THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIVERSITY
WHO ◼ 精液常规与形态学分析 精液分析手册标准(第五版)(WHO 2010) ◼ 精浆生化检测 ◼ 精子DNA检测 ◼ 性激素检测 ◼ 男科超声检测 ◼ 睾丸组织检查 ◼ 遗传学检查 男性不育辅助检查
精液常规与形态学分析(WHO2010) ■精液常规与形态学分析(WHO2010) 标本采集注意事项 地点： 靠近实验室的私密房间，性刺激？！ 时间： 27天，相同的禁欲时间 警器皿：诊断、用于ART、微生物检查 填写信息表和交代注意事项： >标本的完整、不能使用普通避孕套等； >相关信息的填写。 安强滑得火磐第一附店精院 THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIVERSITY
地点：靠近实验室的私密房间，性刺激？！ 时间：2-7天，相同的禁欲时间 器皿：诊断、用于ART、微生物检查 填写信息表和交代注意事项： ➢标本的完整、不能使用普通避孕套等； ➢相关信息的填写。 标本采集注意事项 ◼ 精液常规与形态学分析 (WHO 2010) 精液常规与形态学分析 (WHO 2010)
精液常规与形态学分析(WHO2010) 标本采集注意事项 粤诊断性精液检查：无毒容器， 标明精液的完整性 用于ART精液：容器、吸头、吸管均需无菌 鹭用于微生物学检查： >排尿； >肥皂水清洗阴茎、双手，去除肥皂泡沫： >无菌容器、吸管： >取出标本后3小时内送检。 安滑斜火袋第一附居滑院 THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIVERSITY
诊断性精液检查：无毒容器，标明精液的完整性 用于ART精液：容器、吸头、吸管均需无菌 用于微生物学检查： ➢排尿； ➢肥皂水清洗阴茎、双手，去除肥皂泡沫； ➢无菌容器、吸管； ➢取出标本后3小时内送检。 标本采集注意事项 精液常规与形态学分析 (WHO 2010)