Oocyte maturation defect is an extremely rare primary infertility, which is characterized by ovum development arrest, oocyte complete fertilization failure, oocyte apoptosis before and after fertilization, and early embryonic development arrest. This case explored the genetic etiology of a primary infertility patient, who had no mature oocyte after two cycles of controlled ovarian hyperstimulation. Peripheral blood samples of the patient were collected for whole exome sequencing, the suspected pathogenic variants were screened by bioinformatics and verified by sanger sequencing on the patient and her parents. Results showed that the patient was found to harbor homozygous variant of the PATL2 gene, namely c.1363C>T (p.Gln455*). Sanger sequencing has verified that the parents are both heterozygous. The mutation of c.1363C>T is a rare pathogenic mutation that had not yet been recorded in HGMD database. In this case, PATL2 gene mutation can cause oocyte maturation arrest, it is recommended to use whole exome sequencing and genetic counseling as soon as possible for these patients, so as to select appropriate treatment.

Oocyte maturation defect is an extremely rare primary infertility, which is characterized by ovum development arrest, oocyte complete fertilization failure, oocyte apoptosis before and after fertilization, and early embryonic development arrest. This case explored the genetic etiology of a primary infertility patient, who had no mature oocyte after two cycles of controlled ovarian hyperstimulation. Peripheral blood samples of the patient were collected for whole exome sequencing, the suspected pathogenic variants were screened by bioinformatics and verified by sanger sequencing on the patient and her parents. Results showed that the patient was found to harbor homozygous variant of the PATL2 gene, namely c.1363C>T (p.Gln455*). Sanger sequencing has verified that the parents are both heterozygous. The mutation of c.1363C>T is a rare pathogenic mutation that had not yet been recorded in HGMD database. In this case, PATL2 gene mutation can cause oocyte maturation arrest, it is recommended to use whole exome sequencing and genetic counseling as soon as possible for these patients, so as to select appropriate treatment.

Objective: To investigate the effect of 1,3-diacylglycerol(DAG) on reducing blood lipid and obesity. Methods: Fifty SD rats were divided into five groups: triacylglycerol (TAG) low-fat diet, TAG high-fat diet, DAG high-dose , medium-dose and low-dose diet. The rats were fed for 6 w, and body weight was recorded every week. At the end of the experiment, the ratio of visceral fat to body weight was calculated, and blood lipid was analyzed. Results: The body weight of rats in TAG high-fat group was significantly higher than that in TAG low-fat group from the 2nd week (P

Objective To study the effects of diacylglycerol(DG)on body weight of rats and its possible metabolic mechanism. Method (1) SD rats (n=30) were randomly divided into 3 groups. They were given free access to diets containing 7% (wt) triacylglycerol (TG, control group), 20% (wt) TG or 20% (wt) DG diets, respectively for 8 w. The changes of body weight, height, food intake, and feces were recorded. At the end of experiment, abdominal fat weight (including perirenal fat and epididymal fat), blood lipids were detected. (2) 13 w male Wistar rats (n=50) were divided into 2 groups(administrated with 10% TG or DG emulsion, respectively)in postprandial blood fat profile experiment. Blood lipids of 5 rats were analyzed at desired interval. (3) 6 w male Wistar rats (n=30) were randomly divided into 3 group, control group, DG group and TG group, administrated with glucose solution, 20%DG emulsion and 20%TG emulsion respectively for 6 d. Urine in 144 hr was collected continuously and analyzed for total ketone bodies. Results High DG diet resulted in a significant reduction in both body weight gain, ratio of abdominal fat to body weight and serum TG levels compared with the high TG diet. DG group have higher FFA level in portal vein and lower TG level in jugular vein than those of high TG group. But urine ketone body level of high DG group was higher than high TG group. Conclusion Dietary DG reduced fat accumulation inabdominal region, body and blood, and these effects may be involved with different metabolic ways of DG compared with TG.

Objective To analyze the nutritional composition of lipids in silkworm chrysalis (Bombyx mori L.). Method Crude lipids were extracted by chloroform/methanol, and fatty acid, tocopherol, sterol and phospholipid composition in silkworm chrysalis were determined by GC, HPLC and TLC methods. Results Silkworm chrysalis was rich in lipid (32.79%) in which the most abundant fatty acids were C18:3 (32.79%), C18:1 (32.53%), C16:0 (22.42%), but C18:2 (4.37%), C18:0 (5.73%) and C16:1 (0.57%) were relatively less. The sterols included cholesterol (67.35%), ?-sitosterol (19.21%), and trace amount of campesterol (0.28%) and brassicasterol (0.30%). Total tocopherols detected were at an average concentration of 486 mg/kg, including ?-tocopherol (44.85%), ?(+ ? )-tocopherol (44.57%), and ?-tocopherol (10.85%). The phospholipid content was about 1.17mg/g, among which, phosphorylcholine about 41.8%. Conclusion Silkworm chrystalis (Bombyx mori L.) could be a good source of nutritional edible oil rich in unsaturated fatty acid, phospholipids, phytosterols and tocopherols, particularly ?-linolenic acid, ?-sistosterol and ?-tocopherol.