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Vertical transmission of the Yq AZFc microdeletion from father to son over two or three generations in infertile Han Chinese families

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Asian Journal of Andrology 2010年第2期12卷 240-246页

作者： Xiao-Bin Zhu Yu-Lin Liu Wei Zhang Ping Ping Xiao-Rong Cao Yong Liu Yi-Ran Huang Zheng Li Shanghai Human Sperm Bank Renji Hospital Shanghai Institute of Andrology Shanghai Jiao Tong University School ofMedicine Shanghai 200001 China

This study was carried out to analyze the vertical transmission of Yq AZFc microdeletions from father to son in infertile Han Chinese families to investigate genetic factors and family background affecting fertility *** peripheral blood of infertile males in 19 Han families was extracted and screened with modified multiplex polymerase chain reaction （PCR）. Family trees were drawn according to fertility status and clinical characteristics of the subjects. The vertical transmission of Yq AZFc microdeletions was detected in six cases of 19 investigated families （31.6%,6/19）. Although both fathers and sons showed a similar type of Yq AZFc deletion,the fathers were fertile,whereas the sons were infertile and showed severe oligozoospermia. The vertical transmission of Yq AZFc microdeletion from fertile fathers to infertile sons over generations is not rare. This has different effects on fertility status in fathers and sons in Han Chinese families. Both genetic factors and family background affect spermatogenetic phenotypes.

关键词： infertility microdeletion vertical transmission Y chromosome

microdeletions and vertical transmission of the Y-chromosome azoospermia factor region

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Asian Journal of Andrology 2023年第1期25卷 5-12页

作者： Chen-Yao Deng Zhe Zhang Wen-Hao Tang Hui Jiang Department of Urology Third Hospital of Peking UniversityBeijing 100089China Department of Andrology Third Hospital of Peking UniversityBeijing 100089China Department of Human Sperm Bank Third Hospital of Peking UniversityBeijing 100089China

Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome,the azoospermia factor region(AZF).AZF microdeletions are the main structural chromosomal abnormalities that cause male *** reproductive technology(ART)has been used to overcome natural fertilization barriers,allowing infertile couples to have ***,these techniques increase the risk of vertical transmission of genetic *** widespread awareness of AZF microdeletions,the occurrence of de novo deletions and overexpression,as well as the expansion of AZF microdeletion vertical transmission,remains *** review summarizes the mechanism of AZF microdeletion and the function of the candidate genes in the AZF region and their corresponding clinical ***,vertical transmission cases of AZF microdeletions,the impact of vertical inheritance on male fertility,and the prospective direction of research in this field are also outlined.

关键词： azoospermia factor male infertility microdeletion vertical transmission

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

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Asian Journal of Andrology 2006年第1期8卷 81-88页

作者： Anurag Mitra Rima Dada Rajeev Kumar Narmada Prasad Gupta Kiran Kucheria Satish Kumar Gupta Gamete Antigen Laboratory National Institute of ImmunologyAruna Asaf Ali MargNew Delhi 110067India Department of Anatomy Department of Urology All India Institute of Medical SciencesAnsari NagarNew Delhi 110029India

Aim： To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter＇s syndrome （KFS）. Methods： Blood and semen samples were collected from azoospermic patients with KFS （n = 14） and a control group of men of proven fertility （n = 13）. Semen analysis was done according to World Health Organization （WHO） guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization （FISH） and measurement of plasma follicle stimulating hormone （FSH） by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction （PCR） of 16 sequence tagged sites （STS） and three genes （DFFRY, XKRY and RBM1 Y） was performed on isolated genomic DNA. Testicular fine needle aspiration cytology （FNAC） was done in selected cases. Results： Y chromosome microdeletions spanning the azoospermia factor （AZF）a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels. Conclusion： Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques. （Asian JAndrol 2006 Jan; 8： 81-88）

关键词： azoospermia azoospermia factor follicle stimulating hormone Klinefelter's syndrome Y chromosome microdeletion

Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c(AZFc)region in normozoospermic,severe oligozoospermic and azoospermic men in Sri Lanka

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Asian Journal of Andrology 2006年第1期8卷 39-44页

作者： L.Fernando J.Gromoll T.R.Weerasooriya E.Nieschlag M.Simoni Institute of Reproductive Medicine of the University Münster University HospitalD-48129 MünsterGermany Reproductive Biology LaboratoryFaculty of MedicineKarapitiyaGalleSri Lanka Institute of Reproductive Medicine of the University Münster University HospitalD-48129 MünsterGermany Reproductive Biology Laboratory Faculty of MedicineKarapitiyaGalleSri Lanka

Aim： To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c （AZFc） region in Sri Lankan men and to correlate them with clinical parameters. Methods： In a retrospective study, we analyzed 96 infertile men （78 with non-obstructive azoospermia） and 87 controls with normal spermatogenesis. AZFa, AZFb, AZFc and partial deletions within the AZFc region were analyzed by multiplex polymerase chain reaction （PCR） according to established protocols. Results： No AZFa, AZFb or AZFc deletions were found in the control group. Seven patients in the group of infertile men were found to have deletions as following： one AZFa, two AZFc, two AZFbc and two AZFabc. The relative distribution of these patterns was significantly different compared with that found in the German population. Extension analysis confirmed that the deletions occurred according to the current pathogenic model, gr/gr deletions were found to be equally present both in the patients （n = 4） and in the control group （n = 4）. One b2/b3 deletion was found in the patient group. Conclusion： These results suggest that the frequency and pattern of microdeletions of the Y chromosome in Sri Lankan men are similar to those found in other populations and confirm that gr/gr deletions are not sufficient to cause spermatogenetic failure. （Asian J Androl 2006 Jan; 8： 39-44）

关键词： Y chromosome male infertility gr/gr b2/b3 microdeletion normozoospermia azoospermia factor c

Y microdeletions in the Istria county,Croatia

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Asian Journal of Andrology 2005年第2期7卷 213-216,页

作者： I.Medica N.Gligorievska M.Prenc B.Peterlin Division of Medical Genetics Department of Obstetrics and GynecologyUniversity Medical CentreLjubljana 1000Slovenia Outpatient Pediatric ClinicPula 52100Croatia Division of Medical Genetics Department of Obstetrics and GynecologyUniversity Medical CentreLjubljana 1000Slovenia Outpatient Infertility Clinic Department of GynecologyGeneral Hospital PulaPula 52100Croatia

Aim:To establish the frequency of Y chromosome microdeletions in an unselected group of infertile Croatian men. Methods:An unselected group of 105 patients (male partners of infertile couples),both with idiopathic and non- idiopathic infertility,consecutively referred to the outpatient infertility clinic,gynecology department,General Hospital Pula,Istria County,Croatia,was examined for the presence or absence of Y chromosome microdeletions by poly- merase chain reaction ***:One of the 105 men (0.95 %,95 % CI=0.17-5.2 %) was found to have a ***:A low frequency of Y chromosome microdeletions was found in the group of unselected infertile Croatian men.

关键词： male infertility Y chromosome AZF region microdeletion

Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report

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Gynecology and Obstetrics Clinical Medicine 2021年第3期1卷 169-172页

作者： Wen-cheng Dai Xue-xia Liu Hui-jun Li Gui-ning Song Yan-hui Li Cheng-ling Zhang Lin Zhang Prenatal Diagnose Center of Xinjiang Maternal and Child Health Hospital UrumuqiXinjiang830000China Prenatal Diagnose Center People's Hospital of Peking UniversityBeijing100044China

Background:Mutations and/or duplications in the chromosome 2q24.3 region are known to be responsible for various epilepsy ***,microdeletion in childhood epilepsy is rarely *** presentation:A two-and-a-half-year-old girl with no history of hypocalcemia or seizures developed new symptoms of generalized tonic-clonic *** clinical manifestations were growth retardation,prominent forehead,closed anterior fontanelle,and poor muscle *** blood,echocardiography,abdominal ultrasound,and electroencephalogram(EEG)examinations were all *** karyotype abnormality was found in the patient,but a single nucleotide polymorphism(SNP)array test detected that a 3.5 Mb single-copy microdeletion had occurred in the q24.2-q24.3 region on chromosome *** in situ hybridization(FISH)tests revealed that the 2q24 fragment was inserted into the q11.2 region of the patient's chromosome 15,as well as that of her *** both cases,the patient's mother is the source carrier of the chromosome 15 ***:The deletion of the sodium channel gene cluster(SCN1A,SCN2A,and SCN3A),but not SCN1A haploinsufficiency alone,may contribute to complex infant epilepsy ***,the pathogenic mechanism still needs to be studied further.

关键词： Seizure Chromosome 2q22.2-q24.3 microdeletion Maternal origin

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome

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Journal of Genetics and Genomics 2009年第4期36卷 257-265页

作者： Yiping Shen Bai-Lin Wu Children's Hospital Boston Harvard University Boston MA 02115 USA Institutes of Biomedical Science Fudan University Shanghai 200032 China

Copy number variants （CNVs） are pervasive in the human genome and are responsible for many Mendelian diseases and genomic disorders. The detection of CNVs is an essential element of a complete mutation screening strategy. Many techniques have been developed for gene dosage testing. Multiplex ligation-dependent probe amplification （MLPA） is a robust, easy and flexible technique that can detect both deletions and duplications for more than 40 loci in one assay. It has been widely used in research and diagnostic laboratories. We routinely develop our own MLPA assays for quick validation of array comparative genomic hybridization （CGH） findings. Here we discuss the general principles and critical aspects of MLPA assay development and validation using all synthetic MLPA probes. We believe that MLPA will play important roles in the rapid detection of genomic disorders associated with genomic imbalances, the confirmation of pathogenic mutations involving exonic deletions/duplications, CNV genotyping and population frequency analysis of CNVs.

关键词： CGH CNV genomic disorders microdeletion microduplication MLPA

Genetics and male infertility

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World Journal of Clinical Urology 2015年第1期4卷 38-47页

作者： Gulay Gulec Ceylan Cavit Ceylan Department of Medical Genetics Medical School Yildirim Beyazit University Department of Urology Turkiye Yuksek Ihtisas Education and Training Hospital

The goal of this review is to explain the requirement for understanding the genetic structure of infertility arising from male factor and to discuss the essentials of these genetic elements(2). The majority of the population is affected by this disorder caused by male factor infertility(1); but the etiologies are still unknown. After the primary genetic structure in infertile phenotypes is searched, an evaluation can be made. Thus the reasons causing infertility can be discovered and patients can benefit from effective therapies(1). Publications about male infertility within the recent 10 years in the Pubmed database were discussed(1). There are some approachments for describing the function of specificgenes, but no adequate study is present to be useful for diagnosing and treating male infertility(1). Male fertility and fertility in offspring of males are considerably affected by the exact transition of epigenetic information(1). When the genetic factors playing a role in male infertility were analysed, significant steps will be taken for treating patients and determining the reasons of idiopathic infertility(1). Developments in technology associated with the impact of genetics may enable to specify the etiology of male infertility by determining specific infertile phenotype marks(1).

关键词： Male infertility Chromosomal abnormality Y chromosome microdeletion Genetics Azoospermia factor