نتایج جستجو برای: y chromosome deletion

تعداد نتایج: 668358  

Journal: :Human reproduction 1999
D C Page S Silber L G Brown

Deletion of the AZFc region of the Y chromosome is the most frequent molecularly defined cause of spermatogenic failure. We report three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI). We employed polymerase chain reaction (PCR) assays to examine the Y chromosomes of their four in...

Journal: :Human reproduction 2012
Elsa Kichine Virginie Rozé Julie Di Cristofaro Daniel Taulier André Navarro Eric Streichemberger Fanny Decarpentrie Catherine Metzler-Guillemain Nicolas Lévy Jacques Chiaroni Veronique Paquis-Flucklinger Florence Fellmann Michael J Mitchell

BACKGROUND Recurrent AZFb deletions on the human Y chromosome are associated with an absence of ejaculated spermatozoa consequent to a meiotic maturation arrest that prevents the progression of germ cells to haploid stages. The extreme rarity of partial deletions has hampered the identification of the AZFb genes required for normal meiotic stages. The critical interval, refined by two overlappi...

A. Shamsa M. Jalali M. M. Shariati M. R. Nassiri M. Vakili Azghandi

To determine the role of DDX3Y gene in spermatogenesis and infertility in bulls, blood samples were collected from five infertile bulls (azoospermic; no sperm in the semen) at the Animal Breeding Center in Karaj, Iran. The recommended human primers by EAA/EQMN were investigated using the BLASTn database for STS marker detection. Alignment of STS marker genes with bovine genome was performed. Pr...

Ahmadi Rastegar D Alikhani M Ebrahimi M Hosseini Salekdeh Gh, Jangravi Z Karamzadeh M Mirshahvalad Sh Mohseni Meybodi A Moosavi-Movahedi AA Parsa Matin P Sabbaghian M Shahhoseini M Sharifi Tabar M Taleahmad S Vakilian H

The Human Genome Project has generated a blueprint for the approximately 20,300 gene-encoded proteins potentially active in any of 230 cell types that make up the human body (human proteome). However, based on the UniProtKB/Swiss-Prot database content, about 6000 of at the protein level; for many others, there is very little information related to protein function, abundance, subcellular locali...

2016

This paper reviews past and present trends in mapping the human Y chromosome. So far, mapping has essentially used a combination of cytogenetic and molecular analyses of Y-chromosomal anomalies and sex reversal syndromes. This deletion mapping culminated recently in the isolation of the putative sex-determining locus TDF. With the availability of new separation and cloning techniques suited for...

Journal: :Chemosphere 2010
Faizan Haider Khan Panneer Ganesan Sudhir Kumar

Recent studies have shown Y chromosome microdeletions associated with male infertility. The factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. Therefore, the aim of this study was to investigate the effects of seminal hexachl...

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

Journal: :Reproduction, fertility, and development 2014
Byunghyuk Kim Wonkyung Lee Kunsoo Rhee Soo Woong Kim Jae-Seung Paick

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to ret...

Journal: :International Journal of Health Sciences (IJHS) 2022

Background and Objectives: studying chromosomal changes for anemia patients of children age (3month-12years ) in the city kut diagnosing those abnormalities resulting from having Methods: The chromosomes Patients to were analyzed studied using cytogenetic analysis detect aberrations caused by after collecting blood samples Al-Karama Teaching Hospital as well clinics Kut.Results: Chromosomal all...

Journal: :American Journal of Clinical Pathology 2011

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