Semen Quality is Associated with Sperm Aneuploidy and DNA Fragmentation in the United Arab Emirates Population.

Sperm chromosome aneuploidy and the extent of sperm DNA fragmentation (SDF) are contributing factors to male infertility. Their extent can be measured using platforms such as sperm chromatin dispersion (SCD) and sperm fluorescence hybridization (sFISH). Additional studies, however, are needed to understand the clinical applicability of these tests based on statistically validated thresholds.

Low Gonadotropin Dosage Reduces Aneuploidy in Human Preimplantation Embryos: First Clinical Study in a UAE Population.

Type Of Study: Retrospective analysis of embryo aneuploidy in patients undergoing in vitro fertilization (IVF) cycles.

Aim: To evaluate factors that might affect the incidence of embryo aneuploidy during IVF cycles.

Methods: Three hundred twelve IVF cases were included in the present study.

Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos.

Background: Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD).

Aim: The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD.

Methods: Embryo biopsy, whole-genome amplification, array comparative genomic hybridization (aCGH), and semiconductor sequencing were employed.

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

Background: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups.

Methods: We characterized the mutations in the CFTR gene by single-strand conformation polymorphism followed by sequencing in CF patients.

Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies.

Introduction: Microdeletions in the azoospermia factor region on the long arm of Y chromosome are associated with spermatogenic failure. There are many markers for the diagnosis of Y chromosome microdeletion analysis, but in routine practice only a limited set of markers can be tested.

Objective: The objectives of this study were to determine the frequency of Y chromosome microdeletion in idiopathic cases of male infertility in India, to attempt genotype-phenotype correlation, and to evaluate whether markers to be tested for diagnosis of Y chromosome microdeletion should be ethnicity specific.

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.

Background: Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The molecular basis of CBAVD is not completely understood, especially in developing countries.

Methods: We characterized the mutations/variants in the CFTR gene by single strand conformation polymorphism followed by sequencing in 35 CBAVD patients.