ABSTRACT
Infertility affects approximately 15% of couples in reproductive age. Male infertility is estimated to represent about 20% of the etiologies. Among them, a rare type of teratozoospermia known as globozoospermia leads to disappointing pregnancy outcomes. Morphological, physiological and genetic aspects of this severe disorder have been described. We undertook a complete review of the available data on the reproductive outcomes in globozoospermic patients. To this end, a literature review in both English and French, over a 20-year time period using PubMed/Medline, ScienceDirect, and Scopus was performed. A total of 45 publications describing 172 attempts of treatment with assisted reproduction techniques (ICSI or IMSI with or without oocyte activation) were identified. We reviewed 28 deliveries and 34 children. However, for these patients, the fertilization rate after ICSI remained low. The present review suggests that oocyte activation (in particular with calcium ionophore) could improve the pregnancy rate significantly when dealing with globozoospermia. Once the exact pathogenesis of human globozoospermia is clearly identified, it is likely that other treatments such as recombinant phospholipase C zeta (PLC zeta, PLCζ), which seems to be a promising biological tool, would be developed.
Subject(s)
Fertility , Infertility, Male/therapy , Reproduction , Reproductive Techniques, Assisted , Spermatozoa/pathology , Female , Humans , Infertility, Male/etiology , Infertility, Male/physiopathology , Male , Pregnancy , Pregnancy Rate , Risk Factors , Spermatogenesis , Treatment OutcomeABSTRACT
A cloned gene-specific probe for human complement (C3) was hybridized to DNA samples digested with various restriction endonucleases. The C3 probe detects one restriction fragment length polymorphism (RFLP) that occurs frequently in the French population when DNAs are digested with Sac I. The corresponding DNA alleles can be readily used in linkage analysis of loci on chromosome 19, and such a polymorphism can be followed through myotonic dystrophy families.
Subject(s)
Chromosomes, Human, Pair 19 , Complement C3/genetics , Genetic Markers , Polymorphism, Restriction Fragment Length , DNA Probes , Humans , Myotonic Dystrophy/geneticsABSTRACT
Restriction polymorphisms of three human genomic probes (RC8, L1-28 and p754), located on the short arm of the X chromosome, are studied in a French population panel after digestion with taq I and Pst I endonucleases. Informativeness of these three probes in that population are, respectively, 0.18, 0.41 and 0.50. Two kinds of strategies for utilizing these polymorphisms to prenatal and carrier diagnosis of the Duchenne muscular dystrophy (DMD) are given. The last probe available, p754, is of great interest, cumulating advantages that being nearly the DMD gene (3 centiMorgans) and presenting the maximal informativeness theoretically possible.
Subject(s)
Muscular Dystrophies/genetics , Polymorphism, Genetic , X Chromosome/ultrastructure , DNA , Female , Genetic Carrier Screening , Genotype , Homozygote , Humans , Muscular Dystrophies/diagnosis , Nucleic Acid Hybridization , Pregnancy , Prenatal Diagnosis/methods , Reference ValuesABSTRACT
High molecular weight DNA extracted from 50 unrelated parisian individuals constitutes a "DNA-thèque" which can be used at the population level. This procedure allows preparation from a variety of tissues such as liver, placenta and leucocytes. The "quality" of the DNA obtained (about 50 Kb, RNA and protein free) and the efficiency of the method (in terms of the yield of DNA obtained) are considered. Blood is the easiest material to obtain and permits the obtaining of a reasonable amount of human and primate DNA, particularly when familial investigation is planned for polymorphism studies. One of the objects of this article is to encourage others to make use of our bank, for studies in population and evolutionary genetics.
Subject(s)
DNA/genetics , Tissue Banks , Animals , Callithrix , DNA/blood , DNA/isolation & purification , Female , Genetics, Population , Humans , Lemuridae , Leukocytes/analysis , Liver/analysis , Male , Molecular Weight , Pan troglodytes , Papio , Pedigree , Placenta/analysis , Proteins/analysis , Proteins/genetics , RNA/analysis , RNA/genetics , Tissue PreservationABSTRACT
Variations were observed at the prealbumin-2, carbonic anhydrase-I, 6-phosphogluconate dehydrogenase, phosphoglucomutase-II and adenylate kinase loci in Erythrocebus patas subspecies pyrrhonotus. But the level of heterozygosity was very low compared with those of the different African monkey species studied by the same electrophoretic analysis. The reasons for this low variation are discussed with regard to ethological and genetic structure characteristics of the group studied.
