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Chinese Medical Journal 2017年第4期130卷 490-491页

作者： Chan-Wei Jia Yan-Min Ma Shu-Yu Wang reproductive centre Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing 100026 China

In vitro fertilization-embryo transfer （IVF-ET） is an effective method and an elective procedure to treat infertility caused by various factors, for example, endometriosis, tubal obstruction, and polycystic ovary syndrome. However, this technique leads to a higher rate of complications and are therefore always iatrogenic such as ovarian hyperstimulation syndrome, thrombosis, multiple pregnancy, adnexal torsion, pelvic inflammatory disease （PID）, which may threaten fetal or maternal well-being during the whole pregnancy.

关键词： Disseminated Intravascular Coagulation Endometriosis Hysterectomy In vitro Fertilization Septic Shock

Oxidative stress and male reproductive health

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Asian Journal of Andrology 2014年第1期16卷 31-38页

作者： Robert J Aitken Tegan B Smith Matthew S Jobling Mark A Baker Geoffry N De Iuliis Priority Research centre in reproductive Science Discipline of Biological Sciences Faculty of Science and IT University of Newcastle Callaghan NSW 2308 Australia

One of the major causes of defective sperm function is oxidative stress, which not only disrupts the integrity of sperm DNA but also limits the fertilizing potential of these cells as a result of collateral damage to proteins and lipids in the sperm plasma membrane. The origins of such oxidative stress appear to involve the sperm mitochondria, which have a tendency to generate high leve｜s of superoxide anion as a prelude to entering the intrinsic apoptotic cascade. Unfortunately, these cells have very little capacity to respond to such an attack because they only possess the first enzyme in the base excision repair （BER） pathway, 8-oxoguanine glycosylase 1 （OGG1）. The latter successfully creates an abasic site, but the spermatozoa cannot process the oxidative lesion further because they lack the downstream proteins （APE1, XRCC1） needed to complete the repair process. It is the responsibility of the oocyte to continue the BER pathway prior to initiation of S-phase of the first mitotic division. If a mistake is made by the oocyte at this stage of development, a mutation will be created that will be represented in every cell in the body. Such mechanisms may explain the increase in childhood cancers and other diseases observed in the offspring of males who have suffered oxidative stress in their germ line as a consequence of age, environmental or lifestyle factors. The high prevalence of oxidative DNA damage in the spermatozoa of male infertility patients may have implications for the health of children conceived in vitro and serves as a driver for current research into the origins of free radical generation in the germ line.

关键词： DNA damage oxidative stress oxoguanine glycosylase 1 oocyte spermatozoa

Alternative splicing patterns of doublesex reveal a missing link between Nix and doublesex in the sex determination cascade of Aedes albopictus

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Insect Science 2021年第6期28卷 1601-1620页

作者： Binbin Jin Yijie Zhao Yunqiao Dong Peiwen Liu Yan Sun Xiaocong Li Xin Zhang Xiao-Guang Chen Jinbao Gu Department of Pathogen Biology Guangdong Provincial Key Laboratory of Tropical Disease ResearchSchool of Public HealthSouthern Medical UniversityGuangzhou510515China reproductive Medical centre of Guangdong Women and Children Hospital Guangzhou511442China

Sexual development in insects is regulated by a complicated hierarchical cascade of sex *** primary signals are diverse,whereas the central nexus doublesex(dsx)gene is relatively conserved within the ***(Stegomyia)albopictus is an important vector with an extensive worldwide *** previously reported that *** dsx(Aalbdsx)yields one male-(Aalbdsx^(M))and three female-specific isoforms(Aalbdsx^(F1-3));however,the spatiotemporal expression profiles and mechanisms regulating sex-specific alternative splicing require further *** this study,we demonstrated that the Aalbdsx^(M) messenger RNA(mRNA)represents the default pattern when analyzed in human foreskin fibroblasts and HeLa *** combined reverse transcription polymerase chain reaction with RNA immunoprecipitation using specific antibodies against tagged *** male-determining factor AalNix and confirmed that AalNix indirectly regulates dsx pre-mRNA and regulates its alternative *** the early embryo stage(0-2 and 4-8 h),maternal dsx^(F) and default splicing dsx^(M) were detected in both sexes;the expression of dsx^(M) then decreased until sufficient AalNix transcripts accumulated in male embryos at 20-24 *** findings suggest that one or more potential dsx splicing enhancers can shift dsx^(M) to dsx^(F) in both sexes;however,the presence of Nix influences the function of this unknown splicing enhancer and ultimately leads to the formation of dsx^(M) in ***,our results provide important insight into the regulatory mechanism of dsx alternative splicing in the mosquito.

关键词： Aedes albopictus alternative splicing Doublesex\mosquito control sex determination

Fluorescence in situ hybridization in uncultured amniocytes for detection of aneuploidy in 4210 prenatal cases

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Chinese Medical Journal 2011年第8期124卷 1164-1168页

作者： JIA Chan-wei WANG Shu-yu MA Yan-min LAN Yong-lian SI Yan-mei YU Lan ZHOU Li-ying reproductive and Genetic Medical centre Beijing Obstetrics andGynecology Hospital Affiliated of Capital Medical UniversityBeijing 100026 China

Background Almost all reported fluorescence in situ hybridization （FISH） kits for prenatal diagnosis use probes from foreign （non-Chinese） countries. The aim of this study was to analyze the reliability of domestic （Chinese） FISH probe sets to detect aneuploidies of chromosomes 13, 18, 21, X, and Y related to prenatal diagnosis in 4210 *** Cytogenetic karyotyping was carded out as a standard prenatal diagnostic test, and amniotic fluid cell interphase FISH analysis was performed using two sets of probes （centromeric probes for chromosomes 18, X, and Y,and locus-specific probes for chromosomes 13 and 21） provided by GP Medical Technologies, Beijing, China. Then we compared the two results and found the performance characteristics for informative FISH results of aneuploidies by the domestic kit *** In 4210 cases, 4126 cases generated karyotype results and 133 abnormal karyotypes （including 97 aneuploidies） were found. The FISH results of 98 cases （among them, 31 cases gave normal cytogenetic results） were uninformative. The rate of abnormal cases was 3.2% （133/4126）. For the abnormal karyotypes, the rate of aneuploidy was 72.9% （97/133）. Among the 97 aneuploidies, there were 58 cases of trisomy 21 （58/97, 59.8%）, four cases of trisomy 13, 23 cases of trisomy 18, and 12 cases of sex chromosomal aneuploidies. The total concordance of the two methods was 97.9% （95/97; two cases were mosaics that had a low percentage of abnormal cells）, and the concordance of trisomy 21, 13, and 18 by the two methods was 100%.Conclusions The two sets of the domestic FISH kit probes are reliable for prenatal diagnosis. The results demonstrate that FISH is a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies.

关键词： aneuploidy in situ hybridization prenatal diagnosis

Evaluation of DNA damage profile in obese women and its association to risk of metabolic syndrome,polycystic ovary syndrome and recurrent preeclampsia

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Genes & Diseases 2018年第4期5卷 367-373页

作者： Moushira Zaki Walaa Basha Hala T.El-Bassyouni Safinaz El-Toukhy Tamer Hussein Biological Anthropology Department Medical Research DivisionNational Research CentreCairoEgypt Clinical Genetics Department National Research CentreCairoEgypt Medical Biochemistry Department Medical Research DivisionNational Research CentreCairoEgypt reproductive health Research Department Medical Research DivisionNational Research CentreCairoEgypt

Metabolic syndrome(MS)is a cluster of metabolic *** and MS are always accompanied by elevated oxidative stress which might affect cellular biomolecules such as *** aim of the present study is to investigate DNA damage profile in obese premenopausal women and its relation to the risk of MS,polycystic ovary syndrome(PCOS)and history of recurrent *** study included 90 obese women included cases with MS(nZ30),PCOS(n Z30)and previous history of recurrent preeclampsia(nZ30)and,age-matched healthy non-obese control women(n Z 50).The assessment of leukocyte DNA damage was done by comet assay for all cases and *** and biochemical parameters have been *** showed that mean percent of DNA damage was significantly higher in MS,PCOS as well as in women with the recurrent preeclampsia as compared to healthy *** high level of mean DNA damage frequency in obese women was significantly associated with the increased number of metabolic syndrome *** with 2,3 and 3e5 components showed significantly higher levels of DNA damage than ***,cases with 3e5 MS components showed significant higher DNA compared to those with the two *** PCOS,significant positive association between the mean frequency of DNA damage and waist circumference was *** study suggests that metabolic abnormalities,PCOS and recurrent pre-eclampsia might be contributed in development of DNA damage in obese *** damage can serve as an early marker for obesity complications in premenopausal women.

关键词： DNA damage Metabolic components Obesity PCOS Recurrent preeclampsia

Identification and functional verification of Y-chromosome-specific gene typo-gyf in Bactrocera dorsalis

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Insect Science 2024年第4期31卷 1270-1284页

作者： Peipei Liu Shuning Yu Wenping Zheng Qiuyuan Zhang Jiao Qiao Ziniu Li Zhurong Deng Hongyu Zhang National Key Laboratory for Germplasm Innovation and Utilization for Fruit and Vegetable Horticultural Crops Hubei Hongshan LaboratoryChina-Australia Joint Research Centre for Horticultural and Urban PestsInstitute of Urban and Horticultural EntomologyCollege of Plant Science and TechnologyHuazhong Agricultural UniversityWuhanChina

Genes on the Y chromosome play important roles in male sex determination and *** identification of Y-chromosome-specific genes not only provides a theoretical basis for the study of male reproductive development,but also offers genetic control targets for agricultural ***,Y-chromosome genes are rarely characterized due to their high repeatability and high heterochromatinization,especially in the oriental fruit *** this study,1011 Y-chromosome-specific candidate sequences were screened from 2 to 4 h Bactrocera dorsalis embryo datasets with the chromosome quotient method,6 of which were identified as Y-chromosome-specific sequences by polymerase chain reaction,including typo-gyf,a 19126-bp DNA sequence containing a 575-amino acid open reading *** deformation and a significant reduction in sperm number were observed after typo-gyf knockdown with RNA interference in *** typo-gyf knockout with clustered regularly interspaced palindromic repeats(CRISPR)/CRISPR-associated protein 9 in the embryonic stage,the sex ratio of the emergent adults was unbalanced,with far more females than males.A genotype analysis of these females with the Y-chromosome gene MoY revealed no sex ***-gyf knockout led to the death of XY individuals in the embryonic *** conclude that typo-gyf is an essential gene for male survival,and is also involved in testicular development and *** identification of typo-gyf and its functional verification provide insight into the roles of Y-chromosome genes in male development.

关键词： Bactrocera dorsalis spermatogenesis testis typo-gyf gene Y-specific gene

Pituitary Suppression before Frozen Embryo Transfer Is Beneficial for Patients Suffering from Idiopathic Repeated Implantation Failure

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2016年第1期36卷 127-131页

作者：杨星黄睿王艳芳梁晓燕 reproductive Medicine centre the Sixth Afiliated Hospital of Sun Yat-sen UniversityGuangzhou 510060China

Long-term gonadotropin-releasing hormone agonist（Gn RHa） administration before in vitro fertilization（IVF）/intracytoplasmic sperm injection（ICSI） in infertile women with endometriosis or adenomyosis significantly enhanced the chances of pregnancy in both fresh and frozen embryo transfer cycles. We hypothesized that long-term Gn RHa treatment might also be beneficial for the idiopathic repeated implantation failure（RIF） patients. In the 21 patients receiving Gn RHa and hormone replacement therapy（G-HRT） protocols for frozen embryo transfer, their data were compared with those of the 56 of frozen/fresh cycles they had previously undergone（previous protocols）. Comparison showed that the finial results were significantly better with G-HRT protocols than with their previous protocols, with pregnancy rate, clinical pregnancy rate, implantation rate and on-going pregnancy rate being 70%, 60%, 40% and 38% respectively with G-HRT protocols, against 17%, 11%, 6.3% and 5% with previous protocols. The results showed that hormonally controlled endometrial preparation with prior Gn RHa suppression could be used for patients who had experienced repeated failures of IVF treatment despite having morphologically optimal embryos, and the treatment may help increase the receptivity of the endometrium in these patients.

关键词： idiopathic repeated implantation failure pituitary suppression gonadotrophin-releasing hormone agonists endometrium receptivity

Successful Pregnancy following Transfer of Embryo with Dissolved Zona Pellucida

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reproductive and Developmental Medicine 2020年第1期4卷 60-62页

作者： Li Hong-Xing reproductive Medicine centre the First Hospital of Lanzhou UniversityLanzhou 730000China Key Laboratory for reproductive Medicine and Embryo of Gansu Lanzhou 730000China

This study aimed to describe a case of a patient with the spontaneous dissolution of zona pellucida(ZP)during cleavage embryo development after intracytoplasmic sperm injection(ICSI).This patient experienced early abortion due to fetal chromosome 8 abnormality and received ICSI at 31 years of ***-lapse monitoring of embryo cleavage and blastocyst culture was performed,and we found that the ZP of embryos 1,2,4,and 5 dissolved gradually during the cleavage stage of embryo *** blastocysts that developed from 2 pronuclear zygotes were analyzed using next-generation sequencing,and one frozen-thawed blastocyst was transferred,resulting in intrauterine *** results of amniotic fluid puncture showed normal fetal *** our knowledge,this is the first report of ZP dissolution during the cleavage-stage embryo;however,the exact mechanism remains *** morphological changes inferred that the granular matter in the periocular space was related to the dissolution of ZP through time-lapse observation.

关键词： Blastocyst Transfer Intracytoplasmic Sperm Injection Next-Generation Sequencing Zona Pellucida Dissolution

Falling sperm counts twenty years on： where are we now？

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Asian Journal of Andrology 2013年第2期15卷 204-207,I0006页

作者： R John Aitken Priority Research centre in reproductive Science Discipline of Biological sciences University of Newcastle NSW 2308 Australia

Poor semen quality is an attribute of the human condition that we sharewith our closest primate ancestors and may be part of our evolutionary inheritance. This characteristic may also reflect the lack of selection pressure on male fertility in advanced societies that have gone through the demographic transition. In the future, such trends may be further exacerbated by the widespread use of ART, which will impair the elimination of low fecundity genotypes from the human gene pool. Environmental pollutants may also be influencing male fertility, however, neither the chemical identity of these factors nor their mechanism-of-action are fully understood.

关键词： TESTICULAR DYSGENESIS SYNDROME MALE-INFERTILITY reproductive health PHTHALATE EXPOSURE OXIDATIVE STRESS MALE-FERTILITY Y-CHROMOSOME DNA-DAMAGE DIETHYLSTILBESTROL COMPETITION

Quick recovery and characterization of cell-free DNA in seminal plasma of normozoospermia and azoospermia： implications for non-invasive genetic utilities

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Asian Journal of Andrology 2009年第6期11卷 703-709页

作者： Hong-Gang Li Shi-Yun Huang Hui Zhou Ai-Hua Liao Cheng-Liang Xiong Family Planning Research Institute and centre for reproductive Medicine Tongji Medical College Huazhong Universityof Science and Technology Wuhan 430030 China

We established a quick and reliable method for recovering cell-free seminal DNA （cfsDNA）, by using the binding-washing-elution procedure on the DNA purification column. Low variations （below 15%） among the triplicate values of cfsDNA quantity verified the reproducibility of our cfsDNA recovery method. Similar cfsDNA yield and size distribution between seminal plasma acquired by filtration and centrifugation confirmed the presence of cfsDNA. To investigate the general characterization of cfsDNA, the quantitation and size distribution of cfsDNA from normozoospermic and azoospermic semen were analyzed by real-time PCR and electrophoresis, respectively. CfsDNA concentration in semen with normozoospermia （n = 11） was 1.34 ± 0.65 μg ·mL^-1, whereas a higher cfsDNA concentration was observed in azoospermia （2.56 ± 1.43 μg ·mL^-1, n = 9）. The continuous distribution of DNA fragments ranging from -1 kb to 15 kb and a spectrum of multiples of 180-bp fragments were observed in each normozoospermic and azoospermic sample. Distinct characteristic DNA ladder fragmentations in some azoospermic samples implicated that cfsDNA originate partly from apoptotic cells. CfsDNAs of 36 selected azoospermic patients with known information of Y chromosome microdeletion were subjected to the same microdeletion analysis by multiplex PCR and PCR amplification of sY114 （1 450 bp）. All multiplex PCR reactions with cfsDNA amplified successfully and provided the same result as leukocyte DNA. PCR amplification of sY114 gave a 1 450-bp amplicon as expected. Our data suggested the potential use of cfsDNA in search of biomarker or diagnostic procedures.

关键词： azoospermia cell-free DNA normozoospermia seminal plasma Y chromosome microdeletion