[Ion Torrent PGM sequencing for detection of Y chromosome microdeletion in 87 cases of azoospermia].

Objective: To explore the feasibility of Ion Torrent PGM sequencing in detection of Y chromosome microdeletion.

Methods: We enrolled 87 infertility patients with non-obstructive azoospermia (NOA) in this study and analyzed their routine semen parameters, reproductive hormone levels and chromosomal karyotypes. We detected Y chromosome microdeletion in the patients by Ion Torrent PGM sequencing and multiplex PCR, and compared the detection rates between the two methods.

Miro1 regulates mitochondrial homeostasis and meiotic resumption of mouse oocyte.

Miro1, a mitochondrial Rho GTPase1, is a kind of mitochondrial outer membrane protein involved in the regulation of mitochondrial anterograde transport and its subcellular distribution. Mitochondria influence reproductive processes of mammals in some aspects. Mitochondria are important for oocyte maturation, fertilization and embryonic development.

Epitalon protects against post-ovulatory aging-related damage of mouse oocytes .

The developmental potential of oocytes decreases with time after ovulation or . Epitalon is a synthetic short peptide made of four amino acids (alanine, glutamic acid, aspartic acid, and glycine), based on a natural peptide called epithalamion extracted from the pineal gland. It is a potent antioxidant, comparable to melatonin, that may confer longevity benefits.

Nuclear and cytoplasmic quality of oocytes derived from serum-free culture of secondary follicles in vitro.

In vitro culture of follicles is a promising technology to generate large quantities of mature oocytes and it could offer a novel option of assisted reproductive technologies. Here we described a 2-dimensional follicular serum-free culture system with 3-dimensional effect that can make secondary follicles develop into antral follicles (78.52%), generating developmentally mature oocytes in vitro (66.

Supplementation of c-type natriuretic peptide during growth period benefits the development of murine preantral follicles.

The present study investigated the effects of c-type natriuretic peptide (CNP) on the development of murine preantral follicles during in vitro growth (IVG). Preantral follicles isolated from ovaries of Kunming mice were cultured in vitro. In the culture system, CNP was supplemented in the experimental groups and omitted in the control groups.

The methylation status in GNAS clusters May Be an epigenetic marker for oocyte quality.

During follicle growth, DNA methylation is gradually established, which is important for oocyte developmental competence. Due to the facts that oocytes from prepubertal individuals show reduced developmental outcomes when compared to those from sexually mature individuals, and the fact that oocytes derived from in vitro follicle culture have much lower developmental competence, it is worth exploring whether prepubertal superovulation and in vitro follicle culture will cause changes in DNA methylation imprinting status in oocytes. In this study, we found that the CpG island in maternally imprinted GNAS clusters was hypermethylated in the MII-stage oocytes from sexually mature mice, but was hypomethylated in oocytes from prepuberty individuals.

Density functional theory studies on cytosine analogues for inducing double-proton transfer with guanine.

To induce double-proton transfer (DPT) with guanine in a biological environment, 12 cytosine analogues (Ca) were formed by atomic substitution. The DPT reactions in the Watson-Crick cytosine-guanine model complex (CaG) and 12 modified cytosine-guanine complexes (CaG) were investigated using density functional theory methods at the M06-2X/def2svp level. The intramolecular proton transfers within the analogues are not facile due to high energy barriers.

Mechanistic insights into the reduced developmental capacity of in vitro matured oocytes and importance of cumulus cells in oocyte quality determination.

In vitro maturation of oocytes is a promising assisted reproductive technology (ART) for infertility treatment, although it is still not a routine technique for human ART due to reduced embryonic development. The aim of the present study was to clarify the possible reasons for reduced capacity of in vitro matured oocytes. Our results showed that the oocytes matured in vitro displayed increased abnormal mitochondrial distribution, reduced mitochondrial membrane potential, and increased reactive oxygen species levels when compared to in vivo matured oocytes.

[In vitro culture of the testis tissue of BALB/c mice with spermatogenic dysfunction].

Objective: To explore the pathways of development and maturation of the testis tissue in mice with spermatogenic dysfunction in vitro.

Methods: Sixty-eight 8-week-old BALB/c male mice were randomly divided into four groups of equal number, normal control, Sertoli cell only syndrome (SCOS), severe hypo-spermatogenesis (H-S1), and mild hypo-spermatogenesis (H-S2), and the models were established in the latter three groups by intraperitoneal injection of busulfan at 40 mg/kg for 4, 6 and 8 weeks, respectively. The testis tissues of the mice were cultured with the agarose gel method in vitro till the 4th week, followed by determination of the expressions of the marker proteins STRA8 at meiotic initiation, SCP3 during meiosis, and TNP1 after meiosis by immunohistochemistry.

Cryovial monolayer vitrification for ovarian tissue cryopreservation.

The cryopreservation of ovarian tissue has been proved to be effective for fertility preservation. To find a better cryopreservation method, we tested the efficacy of cryovial monolayer vitrification method in comparison with that of needle immersed vitrification (NIV). Ovaries from 10 female kunming mice aged 6-8 weeks were cut into pieces and allocated into group A (cryovial monolayer vitrification method), group B (NIV method) and group C (fresh control).

Predicting congenital heart defects: A comparison of three data mining methods.

Congenital heart defects (CHD) is one of the most common birth defects in China. Many studies have examined risk factors for CHD, but their predictive abilities have not been evaluated. In particular, few studies have attempted to predict risks of CHD from, necessarily unbalanced, population-based cross-sectional data.

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.

Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly).

Case Presentation: In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family.