polymorphisms and association with idiopathic asthenozoospermia in China.

Idiopathic asthenozoospermia, a common factor in male infertility, is characterized by altered sperm motility function in fresh ejaculate. Although the β-defensin 126 (DEFB126) protein is associated with asthenozoospermia, DEFB126 gene polymorphisms have not been extensively studied. Therefore, the association between DEFB126 gene polymorphisms and asthenozoospermia requires further investigation.

[Influence of Meteorological Factors on HFMD and Construction of Prediction Model in Sichuan Province].

Objective: To analyze the epidemiological characteristics of hand, foot and mouth disease (HFMD) in Sichuan Province from 2013 to 2019. To study the correlation between meteorological factors and the incidence of HFMD and construct a prediction model.

Methods: The HMFD surveillance data and meteorological data from 2013 to 2019 in Sichuan Province were collected through the Chinese Center for Disease Control and Prevention and the China Meteorological data Network.

[Identification of a Novel Mutation of 41 Gene in a Family Affected with Hereditary Elliptocytosis].

Objective: To analyse potential genetic cause of a family affected with hereditary elliptocytosis （HE）.

Methods: Peripheral blood samples from this HE family were collected. Targeted capture and high-throughput sequencing of 4 813 genetic disease-associated genes was performed in four members of the family.

[Idiopathic teratozoospermia is not correlated with c.144delC polymorphism in the AURKC gene in Sichuan].

Objective: To investigate the association of a very common mutation of c.144delC in the aurora kinase C (AURKC) gene with idiopathic teratozoospermia in Chinese infertile men in Sichuan.

Methods: Using polymerase chain reaction (PCR) and next-generation sequencing, we analyzed the correlation between c.

Altered gene expression profile in a rat model of gentamicin-induced ototoxicity and nephrotoxicity, and the potential role of upregulated Ifi44 expression.

As demonstrated by Alport syndrome, the co‑occurrence of auditory and urinary system malformations, and gentamicin-induced ototoxicity and nephrotoxicity, the ears and kidneys potentially share certain molecular pathways. In the present study, microarray chips were used to analyze the changes in the gene expression profile using a rat model of gentamicin‑induced ototoxicity and nephrotoxicity, using rat liver tissue as a control. A number of genes were identified to exhibit similar expression changes in the rat ears and kidney tissues, among which microtubule‑associated protein 44 (Ifi44), was selected for further analysis to validate its expression changes and confirm potential involvement in the inflammation process in the disease model.

Association of polymorphisms in PATE1 gene with idiopathic asthenozoospermia in Sichuan, China.

Purpose: Idiopathic Asthenozoospermia (AZS) is a common symptom of male infertility described as reduced forward motility or absence of sperm motility. The PATE1 is generally expressed in male genital tract and related to sperm development, maturation and fertilization. However, the single nucleotide polymorphisms (SNPs) of the PATE1 gene which contribute to AZS were still unknown.

Association of polymorphisms in tektin-t gene with idiopathic asthenozoospermia in Sichuan, China.

Purpose: The purpose of this research was to study the association between the single nucleotide polymorphisms (SNPs) of the tektin-t gene and idiopathic asthenozoospermia.

Methods: We conducted sequence analyses of the tektin-t gene in 104 idiopathic asthenozoospermia and 102 fertile men with normospermic parameters in Sichuan, China.

Results: In this study, we found that allele 136 T (odds ratio [OR] 1.

Association of polymorphisms in glutathione S-transferase genes (GSTM1, GSTT1, GSTP1) with idiopathic azoospermia or oligospermia in Sichuan, China.

The reported effects of the glutathione S-transferase (GSTs) genes (GSTM1, GSTT1, and GSTP1) on male factor infertility have been inconsistent and even contradictory. Here, we conducted a case-control study to investigate the association between functionally important polymorphisms in GST genes and idiopathic male infertility. The study group consisted of 361 men with idiopathic azoospermia, 118 men with idiopathic oligospermia, and 234 age-matched healthy fertile male controls.

Analysis of CEA expression and EGFR mutation status in non-small cell lung cancers.

Background: The serum carcinoembryonic antigen (CEA) level can reflect tumor growth, recurrence and metastasis. It has been reported that epidermal growth factor receptor (EGFR) mutations in exons 19 and 21 may have an important relationship with tumor cell sensitivity to EGFR -TKI therapy. In this study, we investigated the clinical value of EGFR mutations and serum CEA in patients with non-small cell lung cancer (NSCLC).

[Analysis of Y chromosome microdeletion in non-obstructive male infertile patients with azoospermia and severe oligozoospermia].

Objective: To investigate the frequency and types of the major Y chromosome microdeletions in non-obstructive infertile males with azoospermia and severe oligozoospermia in Chinese.

Methods: Multiplex polymerise chain reaction (PCR) amplification was used to detect Y chromosome microdeletion in 203 nonobstructive infertile men, including 125 patients with azoospermia and 78 with severe oligozoospermia, as well as 100 fertile men in the control group.

Results: Among the 203 non-obstructive infertile cases, 22 (10.

[Association between glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1 and GSTP1) and idiopathic azoospermia].

Objective: To assess the association between glutathione-S-transferase gene polymorphisms GSTT1, GSTM1 and GSTP1 and onset of azoospermia.

Methods: Multi-PCR was used to detect GSTM1 and GSTT1 gene deletions. Polymorphisms of GSTP1 were determined with restriction fragment length polymorphism (RFLP) method in 236 azoospermia patients and 142 healthy fertile male controls.

[Association study between Y-chromosome haplo group and susceptibility to spermatogenisis impairment in Han People from Southwest China].

Idiopathic azoospermia and oligospermia are one of the most important reasons for male infertility. Abnormal karyotype and azoospermia factor (AZF) microdeletion are two widely acknowledged reasons, but the most causes remain unclear. Y chromosome, as the male-specific chromosome, is closely related to the development of male reproductive system.

[Screening and clinical phenotype analysis of microdeletions of azoospermia factor region on Y chromosome in 1011 infertile men].

Objective: To investigate the prevalence and subtypes of microdeletions in azoospermia factor (AZF) region in infertile men from Sichuan in order to correlate genotypes with phenotypes.

Methods: Multiplex-PCR was used to detect sequence tagged sites (STS) of AZF microdeletions in 1011 infertile men including 713 cases of non-obstructive azoospermia and 298 cases of severe oligospermia.

Results: The overall prevalence of microdeletions was 10.

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.

Purposes: To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men.

Methods: This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reaction(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia.

[Effect of dihydroartemisinin on the expression of BCR/ABL fusion gene in leukemia K562 cells].

Objective: To investigate the effect of dihydroartemisinin (DHA) on the BCR/ABL fusion gene in leukemia K562 cell.

Methods: K562 cells were cultured in vitro. The rate of proliferation inhibition of cells treated with various concentrations of DHA were determined by using [3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide] (MTT) method.

[Application of multicolor primed in situ labeling in simultaneous identification of chromosomes 18, X and Y in uncultured amniocytes].

Objective: To establish a multicolor primed in situ labeling (PRINS) protocol for chromosome detection in uncultured amniocytes.

Methods: Chromosomes 18, X and Y in uncultured amniocytes were simultaneously detected by using the non-ddNTP-blocking multicolor PRINS procedure.

Results: Within 7 h, the 3 chromosomes were simultaneously marked in the same uncultured amniocyte.

The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology.

Aim: To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor (AZF) region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia.

Methods: In total, 178 infertile patients with azoospermia (non-obstructed), 134 infertile patients with oligozoospermia as well as 40 fertile man controls were included in the present study. The samples were screened for AZF microdeletion using optimized multi-analyte suspension array (MASA) technology.

[Detecting human chromosome anomalies with primed in situ labeling (PRINS)].

Numerical chromosome anomaly was one of the most important kinds of human chromosome diseases by inducing pregnancy loss, miscarriage, infant death, congenital malformations and nerve damage. The present study was to establish a rapid, reliable and reasonable multicolor primed in situ labeling (PRINS) protocol for diagnosing numerical anomaly in human chromosome. First, nuclei of cultured lymphocytes and sperms were labeled with the method of PRINS, and then nuclei of cultured lymphocytes, sperms and other specimen were labeled with the method of updated non-ddNTP-blocking multicolor PRINS technique.

[Detection of Y chromosome microdeletions in AZF region by liquid chip technology].

Objective: To establish a liquid chip technology to detect Y chromosome microdeletions in Chinese infertile males with azoospermia or oligozoospermia.

Methods: Multiplex PCR and liquid chip technology were used to detect the Y chromosome microdeletions in AZF region in 178 infertile patients with azoospermia and 134 infertile patients with oligozoospermia as well as 40 fertile control men.

Results: Forty out of 312 patients (12.

[Triple-color primed in situ labeling protocol of human metaphase chromosomes].

Objective: To study the feasibility of simultaneous detection for several chromosomes with optimized triple-color primed in situ labelling (PRINS) protocol in cultured peripheral blood lymphocytes.

Methods: Pre-test of gonosome detection with dual-color PRINS protocol was performed to explore and optimize the order and condition of PRINS primers. A peripheral blood sample from a Klinefelter's syndrome patient (47, XXY) had also been studied with optimized triple-color PRINS to prove the correspondence between the number of signals and chromosomes.

[Studies on molecular epidemiology of Y chromosome azoospermia factor microdeletions in Chinese patients with idiopathic azoospermia or severe oligozoospermia].

Objective: To determine microdeletion loci and the characteristic of Y chromosome azoospermia factor(AZF) associated with Chinese idiopathic azoospermia or severe oligozoospermia and hence to provide a theoretic basis for gene diagnosis of AZF microdeletion in Chinese infertility men.

Methods: The subjects of this study included 134 cases of azoospermia and 118 severe oligozoospermia, and 210 healthy male controls. With multiplex PCR technique, an analysis of 15 sequence tag sites(STS) in AZFa, AZFb and AZFc microdeletion was performed.