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1.
The relationship between male infertility and microdeletions in the Y chromosome that remove multiple genes varies among countries and populations. The aim of this study was to investigate the different types of Chromodomain protein, Y-linked 1 (CDY1) gene deletions and their effect on male infertility and spermatogenesis in Tunisian men. A total of 241 infertile men with different spermatogenic impairments and 115 fertile men were included in this study. We determined the prevalence of CDY1a and CDY1b copy deletions by PCR-RFLP using PvuII as restriction endonuclease. Results: Among the 356 Tunisian individuals, 93.25% had the two copies (CDY1a and CDY1b) of CDY gene (91.2% in infertile patients and 97.3% in fertile men). We also found that deletion of CDY1b was significantly more frequent in infertile patients (azoo/oligospermic and normospermic) than in fertile men (7% vs 1.7% respectively; p value = 0.02). However, deletion of CDY1a copy was very rare, and was detected in only one fertile man and four normospermic infertile patients. Our findings showed that deletion of CDY1b copy gene is a significant risk factor for male infertility independent of sperm concentration, whereas deletion of CDY1a gene seems to have no effect on fertility in the Tunisian population.  相似文献   

2.
The relationship between male infertility and AZFc micro-deletions that remove multiple genes of the Y chromosome varies among countries and populations. The purpose of this study was to analyze the prevalence and the characteristics of different Deleted in azoospermia (DAZ) gene copy deletions and their association with spermatogenic failure and male infertility in Tunisian men. 241 infertile men (30.7% azoospermic (n = 74), 31.5% oligozoospermic (n = 76) and 37.7% normozoospermic (n = 91)) and 115 fertile healthy males who fathered at least one child were included in the study. Three DAZ-specific single nucleotide variant loci and six bi-allelic DAZ-SNVs (I–VI) were analyzed using polymerase chain reaction (PCR)–restriction fragment length polymorphism and PCR. Our findings showed high frequencies of infertile men (73.85%) and controls (78.26%) having only three DAZ gene copies (DAZ1/DAZ2/DAZ3 or DAZ1/DAZ3/DAZ4 variants); so deletion of DAZ2 or DAZ4 were frequent both in infertile (36.5% and 37.3%, respectively) and fertile groups (33.9% and 44.3%, respectively) and removing DAZ4 copy was significantly more frequent in oligospermic than in normospermic men (p = 0.04) in infertile group. We also report for the first time that simultaneous deletion of both DAZ2 and DAZ4 copies was significantly more common in infertile men (12.4%) than in fertile men (4.3%) (p = 0.01). However, deletions of DAZ1/DAZ2 and DAZ3/DAZ4 clusters were very rare. Analysis of DAZ gene copies in Tunisian population, suggested that the simultaneous deletion of DAZ2 and DAZ4 gene copies is associated with male infertility, and that oligospermia seems to be promoted by removing DAZ4 copy.  相似文献   

3.
Protamine 2 (PRM2), an essential nuclear protein expressed in sperm, is known to be involved in the spermatogenesis. Although PRM2 defects have been reported to be involved in male infertility, studies for the relationship between male infertility and PRM2 polymorphisms are inconclusive. With the purpose to determine the association of PRM2 variant with male infertility in Chinese Han population, one single nucleotide polymorphism locus G398C in PRM2 which might play a role in semen quality was selected and the variant frequency was analyzed in 144 idiopathic infertile men (case group) and 111 proven-fertile men (control group) in the study. Three genotypes were discovered in the studied population and statistical analysis showed that the frequencies of GG and GC genotypes of PRM2 G398C were significantly different between the fertile and infertile men (P < 0.05) and GC genotype was associated with increased risk of male infertility (OR = 1.795, 95 % CI 1.070–3.013, P = 0.026). Further, the C allele distribution was significantly elevated in infertile group (OR = 1.484, 95 % CI 1.001–2.200, P = 0.049). Moreover, we discovered that sperm motility, progressive motility, sperm DNA integrity as well as nuclear maturity rate of GG genotype presented the highest values and were dramatically different with that of CC genotype (P < 0.05). Our results gave the first evidence that PRM2 G398C polymorphism was associated with the pathogenesis of male infertility and its genetic variation was in relation to semen quality in Chinese Han population.  相似文献   

4.
This study was conducted to evaluate the effects of selenium supplementation on gene expression related to insulin and lipid in infertile women with polycystic ovary syndrome (PCOS) candidate for in vitro fertilization (IVF). This randomized double-blind, placebo-controlled trial was conducted among 40 infertile women with PCOS candidate for IVF. Subjects were randomly allocated into two groups to intake either 200-μg selenium (n = 20) or placebo (n = 20) per day for 8 weeks. Gene expression levels related to insulin and lipid were quantified in lymphocytes of women with PCOS candidate for IVF with RT-PCR method. Results of RT-PCR demonstrated that after the 8-week intervention, compared with the placebo, selenium supplementation upregulated gene expression of peroxisome proliferator-activated receptor gamma (PPAR-γ) (1.06 ± 0.15-fold increase vs. 0.94 ± 0.18-fold reduction, P = 0.02) and glucose transporter 1 (GLUT-1) (1.07 ± 0.20-fold increase vs. 0.87 ± 0.18-fold reduction, P = 0.003) in lymphocytes of women with PCOS candidate for IVF. In addition, compared with the placebo, selenium supplementation downregulated gene expression of low-density lipoprotein receptor (LDLR) (0.88 ± 0.17-fold reduction vs. 1.05 ± 0.22-fold increase, P = 0.01) in lymphocytes of women with PCOS candidate for IVF. We did not observe any significant effect of selenium supplementation on gene expression levels of lipoprotein(a) [LP(a)] in lymphocytes of women with PCOS candidate for IVF. Overall, selenium supplementation for 8 weeks in lymphocytes of women with infertile PCOS candidate for IVF significantly increased gene expression levels of PPAR-γ and GLUT-1 and significantly decreased gene expression levels of LDLR, but did not affect LP(a).Clinical trial registration number: http://www.irct.ir: IRCT201704245623N113.  相似文献   

5.

Background

Since the first report of a decline in semen quality in 1974, there have been several reports of similar declines across populations. Despite some scattered reports of declining semen quality in the Indian sub-continent, comprehensive studies analyzing semen quality over the last few decades have not been undertaken. We undertook the present study to investigate the temporal trend in semen parameters in Indian populations over a period of 37 years (1979–2016).

Methods

Publications providing semen analysis details for fertile and infertile men from the Indian sub-continent were collected by a thorough literature search. Semen quality data for 6466 normal fertile or presumptive normal men (from 119 studies/data sets) and 7020 infertile men (from 63 studies/data sets) published between 1979 and 2016 were retrieved. We undertook systematic review and quantitative analysis of mean sperm count, motility, normal morphology and other available parameters. Data were analyzed to estimate semen parameters reference values for Indian men and to assess temporal trends in infertile, fertile and all subjects.

Results

Seminal quality shows a decreasing temporal trend and the decrease is higher in infertile than fertile males. In pooled analysis for all individuals, significant (p?<?0.05 or?<?0.001) declines in sperm concentration and normal morphology are observed; however, isolated analysis for each group shows declines without statistical significance. The mean (± SD) semen volume, sperm concentration, total motility, rapid linear progressive motility, normal sperm morphology and sperm viability for Indian fertile men are 2.88?±?0.77 ml, 81.08?±?29.21 million/ml, 66.37?±?10.95%, 52.64?±?15.78%, 56.68?±?20.23% and 72.63?±?8.31%, respectively, whereas in infertile these are 3.07?±?1.27 ml, 37.94?±?26.41 million/ml, 40.22?±?13.76%, 26.79?±?15.47%, 36.41?±?21.66% and 55.25?±?11.99%, respectively. The mean seminal parameter values were significantly lower (p?<?0.001) in infertile as compared to fertile men, except semen volume.

Conclusions

Semen parameters in Indian men have declined with time and the deterioration is quantitatively higher in the infertile group. The study also provides reference values for semen parameters in Indian men.
  相似文献   

6.
The present work includes detailed male meiotic studies on 46 species of grasses falling into 59 accessions from different localities of Parvati Valley in Kullu district of Himachal Pradesh in the altitudinal range of 1,100 to 2,750 m. All the species have been studied cytologically for the first time from the study area. The meiotic chromosome count of n = 14 for Calamagrostis emodensis is the first ever chromosome report. Three species, namely Agrostis alba (n = 21), Avena byzantina (n = 21) and Bromus inermis (n = 14) have been studied cytologically for the first time from India. New intraspecific diploid/polyploid cytotypes have been reported for Arthraxon serrulatus (2n = 4x = 32), Iseilema laxum (2n = 12x = 60), Digitaria albudens (2n = 8x = 72), Festuca kashmiriana (2n = 2x = 14) and Stipa orientalis (2n = 2x = 20). The existence of variable number of B-chromosomes (2n = 60 + 0-5B) has been reported for the first time in the 12x cytotype of Iseilema laxum. Secondary associations of chromosomes in the tetraploid cytotype of Cymbopogon martini (n = 20) indicated its secondary polyploid nature. As many as 18 species showed various meiotic anomalies such as the phenomenon of cytomixis involving inter PMC migration of chromatin material, chromatin stickiness, interbivalent connections, abnormal spindle activity, presence of bridges and laggards during anaphases and telophases and abnormal sporads. These meiotic abnormalities consequently yielded sterile and heterogeneous-sized fertile pollen grains. The polyploidy and aneuploidy have played an active role in the evolution of grasses.  相似文献   

7.
Endometriosis is a multifactorial gynecological condition characterized by the presence of ectopic endometrial and stromal tissue outside the uterus. Free radicals and Oxidative stress have been proposed to be involved in the pathogenesis of the endometriosis. It has been shown that mitochondrial DNA (mtDNA) is particularly susceptible to oxidative damage and mutations due to the high rate of reactive oxygen species production and limited DNA repair capacity in mitochondria. While a number of deletions can occur, the most commonly studied in human is a 4977-bp deletion that removes all or parts of the genes for NADH dehydrogenase subunits 3, 4, 4L and 5, cytochrome C oxidase subunit III and ATP synthase subunits 6 and 8.” We evaluated whether mtDNA common deletion is related with the susceptibility to endometriosis in northern Iran. In this study 80 endometriosis cases and 100 controls were enrolled. Total DNA was extracted from endometrial tissue samples. The mitochondrial common deletion was determined by Gap- polymerase chain reaction (Gap-PCR). It was found that the mitochondrial common deletion was more likely to be present in patients with endometriosis. Assessing indicate that 60 % of patients and 8 % of controls show mtDNA 4977-bp deletion (Odds Ratio [OR] = 17.25, P < 0.0001, confidence interval [CI] = 5.18–57.36). The mtDNA 4977 deletion may play a role in endometriosis. Further studies with larger numbers of patients are required for further evaluation and confirmation of our finding.  相似文献   

8.
9.
Surveys of genetic structure of introduced populations of nonindigenous species may reveal the source(s) of introduction, the number of introduction events, and total inoculum size. Here we use the mitochondrial cytochrome c oxidase subunit 1 (COI) gene to explore genetic structure and contrast invasion histories of two ecologically similar and highly invasive colonial ascidians, the golden star tunicate Botryllus schlosseri and the violet tunicate Botrylloides violaceus, in their global and introduced North American ranges. Haplotype and nucleotide diversities for B. schlosseri were significantly higher than for B. violaceus both globally (h = 0.872; ?? = 0.054 and h = 0.461; ?? = 0.007, respectively) and in their overlapping North American ranges (h = 0.874; ?? = 0.012 and h = 0.384; ?? = 0.006, respectively). Comparative population genetics and phylogenetic analyses revealed clear differences in patterns of invasion for these two species. B. schlosseri populations on the west and east coasts of North America were seeded from the Pacific and Mediterranean regions, respectively, whereas all North American B. violaceus populations were founded by one or more introduction events from Japan. Differences in genetic structure of invasive populations for these species in North America are consistent with their contrasting probable introduction vectors. B. schlosseri invasions most likely resulted from vessel hull fouling, whereas B. violaceus was likely introduced as a ??fellow traveler?? in the shellfish aquaculture trade.  相似文献   

10.
Human life history is unique among primates, most notably the extraordinary length of infant dependency and the formation of long-term pair-bonds. Men and women are motivated to remain pair-bonded to maintain the distribution of male-provisioned resources to a woman and her offspring, or to protect offspring from infanticide. Men and women can employ several strategies to retain their mate and prevent their partner from defecting from the relationship, including individual mate retention (behaviors performed alone) and coalitional mate retention (behaviors performed by a close ally). The current research investigates whether men and women with children perform more frequent mate retention behaviors than men and women without children. Participants (n = 1003) currently in a heterosexual romantic relationship completed a survey, reporting whether they had genetic children with their current romantic partner and how frequently they performed various mate retention behaviors. The results indicate that men (n = 262) and women (n = 234) who share genetic children with their current partner performed more frequent individual mate retention behaviors and requested more frequent coalitional mate retention behaviors than men (n = 280) and women (n = 227) who do not share genetic children with their current partner. The results are interpreted as they relate to hypotheses concerning the evolution of pair-bonding in humans, and mate retention behaviors more generally. Limitations of the current research are discussed, and profitable avenues for future research in this domain are suggested.  相似文献   

11.
A particular genotype of tuberculosis, named Beijing strain, is strongly associated with drug resistance and high virulence. Therefore, rapid prospective identification of Mycobacterium tuberculosis Beijing strains is very important for identifying and controlling tuberculosis of Beijing genotype. In the present study, we found that the co-mutation, A191C in Rv2629 and G243C in Rv0444c, is closely related to Beijing genotype. Gene Rv2629 and Rv0444c of 139 clinical isolates of M. tuberculosis were analyzed by PCR amplification and sequencing. Among 99 Beijing strains, 86 % (n = 85) isolates had the mutation G243C in Rv0444c and 92.93 % (n = 92) isolates had the mutation A191C in Rv2629. Among 40 non-Beijing isolates, only six isolates carried the mutation G243C in Rv0444c and eight isolates carried the mutation A191C in Rv2629. The co-mutation existed in 84.85 % (n = 84) of 99 clinical genome samples of W-Beijing strains and in only 12.5 % (n = 5) of the 40 non-Beijing strains, and the positive predictive value of 94.38 %, obtained in our experiment with a designed ratio of Beijing isolates, is similar to that in China at present. This result suggested that the detection method of the co-mutation, A191C in Rv2629 and G243C in Rv0444c, proposed in this study was a rapid, reliable, and sensitive one for identifying tuberculosis with Beijing genotype.  相似文献   

12.
The aim of this study was to screen infertile men for HFE H63D mutation in correlation with clinical characteristics of infertile men (sperm concentration, sperm motility, morphology, testicular volume, Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH) and total Testosterone levels) and find out if the HFE H63D mutation has an effect on male infertility. After excluding hormonal treatment, any scrotal pathology, having any systemic diseases such as diabetes mellitus, sickle cell anemia and microdeletions of the Y chromosome, a total of 148 infertile men with age range between 17 and 52-years-old (average age 29.6 ± 7.2) were enrolled into the study. Our analysis indicates that the mean FSH levels are significantly higher (6.3 ± 4.6 mIU/ml, P = 0.03), whereas sperm motility is significantly lower (36.6 ± 28.1%, P = 0.01) in the infertile men with the HFE H63D mutation compared with subjects lacking this mutation. Comparison of allele frequencies of the infertile men with Ts < 50% versus the infertile men with Ts > 50% revealed a significant difference as expected (P = 0.001, OR = 0.14, %95 CI = 0.04–0.44). Comparison of allele frequencies of infertile men with abnormal sperm motility versus infertile men with normal sperm motility revealed a highly significant difference (P = 0.005, OR = 3.11, %95 CI = 1.41–6.86). Thus, the HFE H63D mutation seems to be an important risk factor for impaired sperm motility and is clinically associated with male infertility.  相似文献   

13.
Genetic diversity and population structure of Sipunculus nudus were evaluated using a 652 base pair fragment of the mitochondrial cytochrome oxidase I gene. The populations were collected from Beihai, Sanya, and Xiamen. A total of 71 polymorphic sites defined 16 distinct haplotypes. The mean haplotype diversity and nucleotide diversity of the three populations were 0.9354 ± 0.0168 and 0.0035 ± 0.0018, respectively. Analysis at the intrapopulation level showed that the Beihai population had the greatest haplotype and nucleotide diversity, followed by the Xiamen and Sanya populations. Analysis of molecular variance showed significant genetic differentiation among the three populations (Fst = 0.0796, P < 0.05). The present results revealed that S. nudus populations had a high level of genetic diversity and distinct population structures.  相似文献   

14.
Mitochondrial dysfunction is common in cancer and the mitochondrial electron transport chain is often affected in carcinogenesis. To date, little is known about the expression of the ATP synthase subunits in clear cell renal cell carcinoma (ccRCC). The NextBio database was used to determine an expression profile of the ATP synthase subunits based on published microarray studies. We observed down-regulation of 23 out of 29 subunits of the ATP synthase. Differential expression was validated exemplarily for 12 genes (ATP5A1, ATP5B, ATPAF1, ATP5C1, ATP5D, ATP5O, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5I, ATP5S; screening cohort ccRCC n = 18 and normal renal tissue n = 10) using real-time PCR. Additional eight genes (ATP5A1, ATP5B, ATPAF1, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5S) were internally validated within an enlarged cohort (ccRCC n = 74; normal renal tissue n = 36). Furthermore, down-regulation of ATP5A1, ATPAF1, ATP5G1/G2/G3 was confirmed on the protein level using Western Blot and immunohistochemistry. We observed that altered expression of ATPAF1 and ATP5G1/G2/G3 was correlated with overall survival in patients with ccRCC. In conclusion, down-regulation of many ATP Synthase subunits occurs in ccRCC and is the basis for the reduced activity of the mitochondrial electron chain. Alteration of the expression of ATP5A1, ATPAF1, and ATP5G1/G2/G3 is characteristic for ccRCC and may be prognostic for ccRCC patients' outcome.  相似文献   

15.
Oxidation of ferrocytochrome c by molecular oxygen catalysed by cytochrome c oxidase (cytochrome aa3) is coupled to translocation of H+ ions across the mitochondrial membrane. The proton pump is an intrinsic property of the cytochrome c oxidase complex as revealed by studies with phospholipid vesicles inlayed with the purified enzyme. As the conformation of cytochrome aa3 is specifically sensitive to the electrochemical proton gradient across the mitochondrial membrane, it is likely that redox energy is primarily conserved as a conformational “strain” in the cytochrome aa3 complex, followed by relaxation linked to proton translocation. Similar principles of energy conservation and transduction may apply on other respiratory chain complexes and on mitochondrial ATP synthase.  相似文献   

16.
17.

Background

Low concentrations of nitric oxide (NO) are necessary for the biology and physiology of spermatozoa, but high levels of NO are toxic and have negative effects on sperm functions. Although several studies have considered the relationship between infertility and semen NO concentrations, no study on the effects of asthenospermia treatments such as oral zinc supplementation on concentrations of NO, which are important in fertility, has been reported. Studies have shown that oral zinc supplementation develops sperm count, motility and the physical characteristics of sperm in animals and in some groups of infertile men. The present study was conducted to study the effect of zinc supplementation on the quantitative and qualitative characteristics of semen, along with enzymes of the NO pathway in the seminal plasma of asthenospermic patients.

Methods

Semen samples were obtained from 60 fertile and 60 asthenozoospermic infertile men of matched age. The subfertile group was treated with zinc sulfate; each participant took two capsules (220 mg per capsule) per day for 3 months. Semen samples were obtained (before and after zinc sulfate supplementation). After liquefaction of the seminal fluid at room temperature, routine semen analyses were performed. The stable metabolites of NO (nitrite) in seminal plasma were measured by nitrophenol assay. Arginase activity and NO synthase activity were measured spectrophotometrically.

Results

Peroxynitrite levels, arginase activity, NO synthase activity and various sperm parameters were compared among fertile controls and infertile patients (before and after treatment with zinc sulfate). Peroxynitrite levels and NO synthase activity were significantly higher in the infertile patients compared to the fertile group. Conversely, arginase activity was significantly higher in the fertile group than the infertile patients. Peroxynitrite levels, arginase activity and NO synthase activity of the infertile patient were restored to normal values after treatment with zinc sulfate. Volume of semen, progressive sperm motility percentage and total normal sperm count were increased after zinc supplementation.

Conclusions

Treatment of asthenospermic patients with zinc supplementation leads to restored peroxynitrite levels, arginase activity and NO synthase activity to normal values and gives a statistically significant improvement of semen parameters compared with controls.

Trial registration

ClinicalTrials.gov identifier: NCT01684059  相似文献   

18.
The goal of this study was to investigate the phylogeny, invasion history and genetic structure of the global invader Megabalanus coccopoma. First, we created a Bayesian phylogeny using cytochrome oxidase I and 16S mitochondrial genes of samples we collected and sequences available on GenBank for all species in the genus Megabalanus. Second, we compared the genetic differences within and between native and invasive populations verified as M. coccopoma by constructing a haplotype network of the COI sequences and estimating gene diversity (h) and nucleotide diversity (π). Finally, we ran an analysis of molecular variance and calculated pairwise Φ ST to evaluate the similarity among populations. We identified several lineages that correspond to putatively different species of Megabalanus and uncovered nomenclature discrepancies among GenBank samples and undocumented lineages from our own collections. However, we found that the majority of samples were indeed M. coccopoma. Among populations of M. coccopoma, levels of within-population genetic diversity were not significantly different (p h  = 0.131, p π  = 0.129) between native (h = 0.970, π = 0.00708) and non-native populations (h = 0.950, π = 0.00605) and analysis of molecular variance analyses revealed that 98.34 % of the genetic variation was partitioned within populations with a significant global Φ ST  = 0.017. Our results revealed that invasions in at least the southeastern United States and Brazil are composed of multiple lineages; however, we found that most of the global invasion occurred from a single lineage, M. coccopoma, and that no significant genetic differentiation exists between native and non-native populations of this species.  相似文献   

19.
The present study is part of our research project on cytomorphology of gamopetalous flora of Kashmir Himalaya, a zone with rich biodiversity. Out of 134 species of Gamopetalae meiotically investigated, chromosome numbers for 30 accessions belonging to 17 species and six families are new or varied reports. Euphrasia paucifolia (n = 22), Lactuca decipiens (n = 8), Saussurea albescens (n = 17), Saussurea roylei (n = 16), Saussurea taraxacifolia (n = 16) and Veronica deltigera (n = 8) are first cytological reports for these species. Anaphalis nepalensis (n = 28), Codonopsis rotundifolia (n = 16) and Hieracium vulgatum (n = 27) are new euploid chromosome reports for these species suggesting potential speciation through chromosomal evolution. Besides, Androsace mucronifolia (n = 10), A. sempervivoides (n = 10), Cicerbita lessertiana (n = 8), Dracocephalum nutans (n = 5), Erigeron patentisquama (n = 9), Galium pauciflorum (n = 11), Onopordum acanthium (n = 17) and Xanthium spinosum (n = 8) are the first chromosome reports to Indian accessions of the species. Out of the 17 species, 9 species (52.9 %) viz. A. nepalensis, C. lessertiana, C. rotundifolia, D. nutans, E. patentisquama, Euphrasia paucifolia, L. decipiens, O. acanthium and V. deltigera show abnormal meiosis/microsporogenesis of one or other type, thereby leading to pollen anomalies.  相似文献   

20.
Most perennial herbaceous plants are able to reproduce vegetatively as well as sexually. Sometimes, such plants may lose the capacity for sexual reproduction. We have studied the case of sterility in triploid populations (2n = 3x = 45) of Gladiolus tenuis M.Bieb. in a considerable part of its area of distribution. Initially, we recorded the presence of a large clone of G. tenuis to the east of the Volga River, as a result of isozyme analysis. We also used AFLP fingerprinting to genotype 55 samples from 10 populations of G. tenuis and one population of the closely related G. imbricutus L. This analysis revealed an extremely low genetic diversity in sterile triploid populations of G. tenuis and a rather high genetic diversity in fertile tetraploid populations (2n = 4x = 60) over most of the area of this species. Genetic distances between fertile and sterile populations of G. tenuis were similar to those between different species of gladioli. It appears that a single sterile genotype has spread vegetatively over 800 km, propagating by daughter corms. The study of the reproductive features of G. tenuis suggests that the cause of sterility may be self-incompatibility between individuals of the clone.  相似文献   

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