OBJECTIVETo assess the association of the A260G and A386G single nucleotide polymorphisms (SNP) of the DAZL gene with male infertility in the Chinese population of Zhejiang Province.

METHODSWe collected the peripheral blood samples from 317 idiopathic infertile males with azoospermia or oligozoospermia and 246 normal fertile men, and genotyped the polymorphic loci of the A260G and A386G polymorphisms of the DAZL gene using the SNaPshot technique.

RESULTSThe DAZL gene A260G was found genetically polymorphic in the Chinese population of Zhejiang Province, with the gene frequencies and their distribution consistent to the Hardy-Weinberg equilibrium. The frequencies of the AA, AG and GG genotypes of the A260G polymorphism were 92.3%, 7.3%, and 0.4% respectively in the normal controls and 94.3%, 5.7%, and 0% in the infertile patients, with no statistically significant differences between the two groups (P = 0.43, OR = 0.78, 95% CI 0.413-1.46). Heterozygosis (AG) of A386G was found in 1 of the control males but not in the infertile patients, while homozygosis (GG) of A386G was not observed in either group (P = 0.259, OR = 0.698, 59% CI: 0.374-1.306).

CONCLUSIONA260G and A386G SNPs of the DAZL gene are not associated with spermatogenic failure and neither represents a molecular marker for the genetic diagnosis of male infertility in the Chinese population of Zhejiang Province.

Asian Continental Ancestry Group ; Azoospermia ; genetics ; China ; Gene Frequency ; Genetic Markers ; Genotype ; Humans ; Infertility, Male ; genetics ; Male ; Oligospermia ; genetics ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; RNA-Binding Proteins ; genetics

OBJECTIVE: To evaluate the spontaneous brain activity alterations in liver transplantation (LT) recipients using resting-state functional MRI. MATERIALS AND METHODS: Twenty cirrhotic patients as transplant candidates and 25 healthy controls (HCs) were included in this study. All patients repeated the MRI study one month after LT. Amplitude of low-frequency fluctuation (ALFF) values were compared between cirrhotic patients (both pre- and post-LT) and HCs as well as between the pre- and post-LT groups. The relationship between ALFF changes and venous blood ammonia levels and neuropsychological tests were investigated using Pearson's correlation analysis. RESULTS: In the cirrhotic patients, decreased ALFF in the vision-related regions (left lingual gyrus and calcarine), sensorimotor-related regions (left postcentral gyrus and middle cingulate cortex), and the default-mode network (bilateral precuneus and left inferior parietal lobule) were restored, and the increased ALFF in the temporal and frontal lobe improved in the early period after LT. The ALFF decreases persisted in the right supplementary motor area, inferior parietal lobule, and calcarine. The ALFF changes in the right precuneus were negatively correlated with changes in number connection test-A scores (r = 0.507, p < 0.05). CONCLUSION: LT improved spontaneous brain activity and the results for associated cognition tests. However, decreased ALFF in some areas persisted, and new-onset abnormal ALFF were possible, indicating that complete cognitive function recovery may need more time.
Ammonia ; Brain* ; Cognition ; Fibrosis ; Frontal Lobe ; Hepatic Encephalopathy ; Humans ; Liver Transplantation* ; Liver* ; Magnetic Resonance Imaging ; Motor Cortex ; Neuropsychological Tests ; Occipital Lobe ; Parietal Lobe ; Rabeprazole ; Somatosensory Cortex

OBJECTIVETo analyze clinical symptoms and disease-causing mutations of corneodesmosin (CDSN) gene in a Chinese family affected with hypotrichosis simplex of the scalp and to establish a method for prenatal diagnosis.

METHODSFamily survey and clinical examinations were carried out to determine the inheritance pattern. Three patients and 7 unaffected relatives from the family, in addition with 100 unrelated healthy controls were recruited. Genomic DNA from peripheral blood leukocytes was extracted. Five pairs of primers were designed based on the CDSN gene sequence. Exons and flanking regions of the CDSN gene were amplified using polymerase chain reaction (PCR). Potential mutations were analyzed through direct sequencing and comparison by BLAST.

RESULTSThe type of alopecia of the family was diagnosed as hypotrichosis simplex of the scalp with an autosomal dominant inheritance pattern. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family, which resulted in a premature stop codon (Y239X). The same mutation was not found among healthy members of the family and 100 healthy controls.

CONCLUSIONA Chinese family was diagnosed with hypotrichosis simplex of the scalp, which was caused by a novel nonsense mutation (Y239X) in the CDSN gene.

Alopecia ; genetics ; China ; Codon, Nonsense ; Female ; Glycoproteins ; genetics ; Humans ; Hypotrichosis ; genetics ; Male ; Middle Aged ; Pedigree ; Scalp

OBJECTIVETo investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis.

METHODSFive patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions.

RESULTSAll patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded.

CONCLUSIONThe hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

Base Sequence ; DNA Mutational Analysis ; Dwarfism ; genetics ; Exons ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Receptor, Fibroblast Growth Factor, Type 3 ; genetics

The present study was conducted to investigate the effects of gossypol acetic acid (GAA) on the proliferation of human mucoepidermoid carcinoma cell line MEC-1 in vitro and its possible molecular mechanisms of DNA double-strand breaks (DSB). MTT assay was performed to test the inhibition of proliferation of MEC-1 cells by GAA. DSB and γH2AX foci formation induced by GAA were detected by neutral comet assay and immunostaining. GAA (5-40 μmol/L) inhibited the growth of MEC-1 cells in a dose- and time-dependent manner. One of the indexes of comet assay, percentage of head DNA was decreased, however other indexes, including tail length, percentage of tail DNA, tail moment (TM) and Olive tail moment (OTM) were increased when treated with 2.5- 40 μmol/L GAA for 24 h or 20 μmol/L GAA for 3-48 h, compared with those in control. The percentage of γH2AX-positive cells was also increased when MEC-1 was treated with 2.5-20 μmol/L GAA for 24 h or 20 μmol/L GAA for 3-48 h, compared with that in control. All these results show that GAA inhibits the proliferation of MEC-1, and DSB maybe one of the mechanisms of inhibitory effect of GAA on the growth of tumor cells.
Antineoplastic Agents, Phytogenic ; pharmacology ; Carcinoma, Mucoepidermoid ; genetics ; pathology ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; DNA Breaks, Double-Stranded ; drug effects ; Gossypol ; analogs & derivatives ; pharmacology ; Humans ; Parotid Neoplasms ; genetics ; pathology

OBJECTIVETo analyze the meiotic segregation results of the spermatozoa from male pericentric inversion carriers by fluorescence in-situ hybridization (FISH).

METHODSUsing chemical depolymerization and multicolor FISH, we analyzed the meiotic segregation results of the spermatozoa from 4 male pericentric inversion carriers.

RESULTSOf the 4 males studied, 46,XY,inv(9) (p11q12) was found in 2, 46,XY,inv(9) (p11q13) in 1 and 46,XY,inv(6) (p22q24) in the other; the lengths of the inverted segments represented 16.0, 16.0, 21.0 and 76.0% of the size of the whole chromosome involved; and the frequencies of recombinant sperm were 0.2, 0.4, 0.3 and 43.9%, del(p)/dup(q) accounting for 22.4% and del(q)/dup(p) 21.5%, respectively.

CONCLUSIONMales with pericentric inversion may produce spermatozoa with recombinant chromosomes and the rate of recombination varies principally according to the size proportion to the whole chromosome involved. The results of FISH analysis of chromosomal unbalanced spermatozoa can provide accurate personalized information on the genetic risk of fertility.

Adult ; Chromosome Inversion ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Heterozygote ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Infertility, Male ; genetics ; Male ; Meiosis ; Spermatozoa

OBJECTIVETo identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.

METHODSTwo patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were amplified with polymerase chain reaction (PCR) and sequenced.

RESULTSA heterozygous c.600G>A (p.Trp200X) mutation in exon 1 of the EXT1 gene was detected in the patients. The same mutation was not found in unaffected family members and 100 healthy controls.

CONCLUSIONThe hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.

Asian Continental Ancestry Group ; genetics ; Child ; Exostoses, Multiple Hereditary ; diagnosis ; genetics ; Female ; Heterozygote ; Humans ; Male ; Mutation ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree

OBJECTIVETo investigate the correlation of sperm DNA damage and sperm-nucleoprotein transition with acrosin activity and seminal parameters.

METHODSWe collected 535 semen samples, assessed sperm DNA damage by sperm chromatin dispersion test, and analyzed the correlation of sperm DNA damage and sperm-nucleoprotein transition with acrosin activity and seminal parameters according to the WHO criteria.

RESULTSStatistically significant differences were observed in sperm DNA damage among sperm-nucleoprotein transition, acrosin activity, sperm concentration and the percentage of grade a + b sperm (P < 0.01). Sperm DNA damage was positively correlated with age, sperm-nucleoprotein transition, sperm concentration and the percentage of grade d sperm (P < 0.01 or P < 0.05), but negatively correlated with acrosin activity (P < 0.001). Stepwise linear regression analysis demonstrated that age, sperm concentration, the percentage of grade d sperm, sperm-nucleoprotein transition and acrosin activity were independent variables related to the DNA fragmentation index (DFI). The abnormality rates of sperm-nucleoprotein transition, acrosin activity, sperm concentration and graded a + b sperm were significantly higher in the sperm DNA damage group (DFI > or = 30%) than in the normal control (DFI < 30%) (P < 0.01).

CONCLUSIONSperm DNA damage is closely related with sperm-nucleoprotein transition, acrosin activity and seminal parameters, which may become another important independent parameter for the evaluation of sperm quality.

Acrosin ; genetics ; Adult ; Chromatin ; DNA Damage ; DNA Fragmentation ; Humans ; Infertility, Male ; genetics ; Male ; Nucleoproteins ; genetics ; metabolism ; Sperm Count ; Sperm Motility ; Spermatozoa

Neuropeptide Y (NPY) is one of the most important orexigenic agents in central regulation of feeding behavior, body weight and energy homeostasis in domestic chickens. To examine differences in the hypothalamic NPY between layer-type and meat-type of chickens, which are two divergent kinds of the domestic chickens in feeding behavior and body weight, we detected mRNA levels of NPY in hypothalamic infundibular nucleus (IN), paraventricular nucleus (PVN) and lateral hypothalamic area (LHA) of these two types of chickens using one-step real time RT-PCR. The meat-type chicken had more food daily (about 1.7 folds) and greater body weights (about 1.5 folds) and brain weights than the layer-type chicken at the age of 14 d. In the meat-type of chicken, NPY mRNA levels of the IN and PVN were significantly greater than those of the LHA, and were not significantly different between the IN and PVN. However, in the layer-type of chicken, NPY mRNA levels were significantly greater in the IN than those in the LHA and PVN, and were not significantly different between the PVN and LHA. In all these hypothalamic regions, the layer-type of chicken had significantly higher NPY mRNA levels than the meat-type chicken did. These results suggest the expression of NPY in the hypothalamus has a type-dependent pattern in domestic chickens.
Animals ; Body Weight ; Chickens ; classification ; metabolism ; Hypothalamus ; metabolism ; Male ; Meat ; Neuropeptide Y ; genetics ; RNA, Messenger ; analysis

Objective: To evaluate the clinical efficacy of moxibustion with monkshood cake on the acupoints along related meridian for functional dyspepsia (FD) patients. Methods: Sixty patients suffering from functional dyspepsia who met with the inclusion criteria were enrolled in our randomized and controlled trial and randomly divided into two different groups, 30 and 28 patients have finished the treatment respectively. Patients of each group were given with moxibustion with monkshood cake on different acupoints, Group A chose acupoints along related meridian (ST 34, ST 36, ST 40 and ST42), while Group B chose acupoints along non-related meridian (GB 34, GB 36, GB 37 and GB 40) . Patients of each group received moxibustion treatment on alternate days, 3 times a week for a total of 12 times. The efficacy was evaluated using the Nepean Dyspepsia Index (NDI) and the Somatic Self-rating Scale (SSS) before, 2 weeks after and 4 weeks after the treatment, respectively. Results: Considering the NDI scale, the result showed that improvement scores of Group A were higher than that of Group B with statistical significance (P ＜ 0.01) . Both groups had improved patients' quality of life after the treatment (P ＜ 0.05), but the improvements in Group A were significantly better than those in Group B (P ＜ 0.01) . Conclusion: The clinical efficacy of moxibusion with monkshood cake on the acupoints along related meridian was better than that of the non-related meridian.