Unraveling the paternal genetic structure and forensic traits of the Hui population in Liaoning Province, China using Y-chromosome analysis.

The Hui people are the second-largest ethnic minority in China, and they are distributed throughout the country. A previous study explored the paternal genetic structure of the Hui population in nine different regions of China, but it overlooked the Liaoning province. In this study, we examined the paternal genetic makeup and forensic traits of the Hui population in Liaoning province by analyzing 157 Y-chromosome single nucleotide polymorphisms (Y-SNPs) and 26 short tandem repeats (Y-STRs). We successfully genotyped 282 unrelated male individuals from the Hui population of Liaoning province using the SNaPshot® single base extension assay and Goldeneye™ Y26 system kit (PEOPLESPOT R&D, Beijing, China). The results revealed high haplotypic diversity (0.9998) and identified 46 terminal haplogroups for the Hui population. Additional analyses, such as heat maps, principal component analysis (PCA), genetic distance (FST), Multidimensional scaling (MDS) analysis, and median-joining network (MJ) analysis, showed that the Hui population could be classified into three groups: Northwest Hui populations (NWH), including Liaoning, Xinjiang, Qinghai, Gansu, Ningxia, Shaanxi, and Henan; Hui populations from Sichuan and Shandong (SSH); and Yunnan Hui populations (YNH). Pairwise genetic distance (Rst) comparisons with other Chinese populations revealed that the Hui population displayed genetic affinity with the Han population. The comprehensive understanding of the Hui population in Liaoning province, explored by Y-SNPs and Y-STRs, can be utilized to interpret their genetic structure and enhance the accuracy of forensic databases.

Extrauterine Growth Restriction: Need for an Accurate Definition.

Neonates show considerable variation in growth that can be recognized through serial measurements of basic variables such as weight, length, and head circumference. If possible, measurement of subcutaneous and total body fat mass can also be useful. These biometric measurements at birth may be influenced by demographics, maternal and paternal anthropometrics, maternal metabolism, preconceptional nutritional status, and placental health. Subsequent growth may depend on optimal feeding, total caloric intake, total metabolic activity, genetic makeup, postnatal morbidities, medications, and environmental conditions. For premature infants, these factors become even more important; poor in utero growth can be an important reason for spontaneous or induced preterm delivery. Later, many infants who have had intrauterine growth restriction (IUGR) and are born small for gestational age (SGA) continue to show suboptimal growth below the 10th percentile, a condition that has been defined as extrauterine growth restriction (EUGR) or postnatal growth restriction (PNGR). More importantly, a subset of these growth-restricted infants may also be at high risk of abnormal neurodevelopmental outcomes. There is a need for well-defined criteria to recognize EUGR/PNGR, so that correctional steps can be instituted in a timely fashion.

Early-Onset Colorectal Cancer: Current Insights.

Over the past decade, the incidence of colorectal cancer has increased in individuals under the age of 50 years. Meanwhile, the incidence has gradually decreased in the older population. As described herein, we reviewed the available literature to summarize the current landscape of early-onset colorectal cancer, including risk factors, clinicopathological presentation, genetic makeup of patients, and management. Currently, early-onset colorectal cancer is treated similarly as late-onset colorectal cancer, yet the available literature shows that early-onset colorectal cancer is more aggressive and different, and this remains a significant unmet need. A detailed understanding of early-onset colorectal cancer is needed to identify risk factors for the increased incidence and tailor treatments accordingly.

Comparing the taxonomic and functional profiles of gut microbiota from three pig breeds by metagenomic sequencing.

To investigate the difference of microbial communities among Diannan small-ear (DNSE), Dahe black (DHB) and Yorkshire (YS) pigs, we compared the microbial taxonomic and functional composition using a metagenomic approach. A total of 1,002,362 non-redundant microbial genes were identified, DHB and YS pigs had more similar genetic makeup compared with DNSE pigs. Bacteroidetes, Firmicutes and Spirochetes were the three most abundant phyla for all pig breeds, and DNSE pigs had a higher abundance of Prevotella genus than DHB and YS pigs. The functional profiles varied among the three pig breeds, DNSE pigs had more active carbohydrate metabolism and more abundant antibiotic resistance genes than the other two pig breeds. Moreover, we found that peptide and macrolide resistances genes in DNSE pigs were more abundant than that in DHB pigs (p < 0.05). This study will help to provide a theoretical basis for the development of native pig breeds in Yunnan Province, China.

Using large databases to study cancer genomics in an undergraduate classroom.

Cancer databases collect original cancer studies and patient clinical information into one site that allows for global analysis. While many courses focus on cancer, few utilize these powerful cancer databases. Our goal was to create a lab experience in which students could explore original cancer study databases, looking at the expression and incidence of driver mutations of cancer. First, the students focus on a specific patient including demographic data and type of cancer. Then the students analyze mRNA expression levels associated with mutations of the gene, determining if it is a tumor suppressor or oncogene. Students also learn which mutations are actionable and how they affect survival. In summary, this module allows students to analyze global trends in driver mutations in cancers and dive into specific patient features.

The Impact of Pharmacogenomics in Personalized Medicine.

Recent advances in Pharmacogenomics have made it possible to understand the reasons behind the different response of a drug. Discovery of genetic variants and its association with the varying response of drug provide the basis for recommending a drug and its dose to an individual patient. Genetic makeup-based prescription, design, and implementation of therapy not only improve the outcome of treatments but also reduce the risk of toxicity and other adverse effects. A better understanding of individual variations and their effect on drug response, metabolism excretion, and toxicity will replace the trial-and-error approach of treatment. Evidence of the clinical utility of pharmacogenetics testing is only available for a few medications, and FDA labels only require pharmacogenetics testing for a small number of drugs. Although there is a great promise, there are not many examples where Pharmacogenomics impacts clinical utility. Some genetic variants related to different diseases have been reported, and many have not been studied yet. The information related to the outcome of treatment with a particular drug and a genetic variant can be used to release a warning/label for the use of that drug. There are many limitations in the way of implementing the goal of personalized medicine. Future advances in the field of genomics, diagnosis approaches, data analysis, clinical decision-making, and sustainable business model for personalization of therapy can speed up the individualization of therapy based on genetic makeup.

Zinc biofortification of cereals-role of phosphorus and other impediments in alkaline calcareous soils.

Alkaline calcareous soils are deficient in plant nutrients; in particular, phosphorus (P) and zinc (Zn) are least available; their inorganic fertilizers are generally applied to meet the demand of crops. The applied nutrients react with soil constituents as well as with each other, resulting in lower plant uptake. Phosphorus availability is usually deterred due to lime content, while Zn availability is largely linked with alkalinity of the soil. The present manuscript critically discusses the factors associated with physicochemical properties of soil and other interactions in soil-plant system which contribute to the nutrients supply from soil, and affect productivity and quality attributes of cereals. Appropriate measures may possibly lessen the severity of nutritional disorder in cereal and optimize P and Zn concentrations in grain. Foliar Zn spray is found to escape most of the soil reactions; thus, Zn bioavailability is higher either through increase in grain Zn or through decrease in phytate content. The reactivity of nutrients prior to its uptake is deemed as major impediments in Zn biofortification of cereals. The article addresses physiological limitation of plants to accumulate grain Zn and the ways to achieve biofortification in cereals, while molecular mechanism explains how it affects nutritional quality of cereals. Moreover, it highlights the desirable measures for enhancing Zn bioavailability, e.g., manipulation of genetic makeup for efficient nutrient uptake/translocation, and also elucidates agronomic measures that help facilitate Zn supply in soil for plant accumulation.

Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India.

OBJECTIVES: This observational study was done to describe the clinical profile, and delays in diagnosing cystic fibrosis (CF) disease in Kashmir, India. MATERIALS AND METHODS: A total of 6758 patients between the ages of 0 and 19 years were registered over a period of 1 year. Out of these, 150 patients suspected of having CF, on clinical grounds, were subjected to pilocarpine iontophoresis, and later on genetic evaluation. Apart from these specific tests, these patients were subjected to laboratory tests like blood counts, blood sugar, KFT, LFT, pancreatic function test, serum electrolytes, and chloride, urine, throat swab, blood culture, ABG analysis, chest and paranasal X-rays. In addition, sonographic evaluation of abdominal organs was carried out to know the status of internal organs. A polymerase chain reaction (PCR)-based test was used for the identification of CF mutation. RESULTS: CF was diagnosed in three (0.8%) patients. Median age of presentation of CF was 78 months. Family history suggestive of CF was present in one (33.3%) and consanguinity in three (100%) patients. Common clinical manifestations at the time of presentation included recurrent pneumonia in three (100%), failure to thrive in three (100%), recurrent diarrhea in one (33.3%) patients. General physical examination showed pallor in three (100%), malnutrition in three (100%), and clubbing in two (66.7%) patients. Examination of respiratory tract revealed hyperinflation in two (66.7%), rhinitis in two (66.7%), and creptations in two (66.7%) patients. Sonography of abdominal organs revealed pancreatic cysts in one (33.3%), hyperechoeic and increased liver span in two (66.7%), and small gallbladder in one (33.3%). Staphylococcus aureus was cultured from sputum in one (33.3%), pseudomonas aeruginosa in one (33.3%) patients. Delta F508 mutation was present in one (33.3%) patient. CONCLUSION: CF may be more common in Kashmir and other parts of Asia, than indicated by our study; diagnosis is often considerably delayed when the disease is identified solely on clinical grounds. It would be advisable to raise the index of suspicion about CF.