Journal of Genetics最新文献

Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women. In recent years, the effects of vitamin D receptor (VDR) gene variants and VitD3 levels on clinical features of PCOS have been frequently described. In this study, we aimed to determine the relationship between VDR ApaI, TaqI and Cdx2 gene variants and VitD3 levels in PCOS patients. Patients were divided into two groups: BMI<25 and BMI>=25. VDR genotypes were determined by real-time polymerase chain reaction (PCR) and serum VitD3 levels were examined by ELISA. We observed that frequencies of the Apa1 AC genotype, C allele and Cdx2 T allele are increased in the BMI>=25 group compared to BMI<25 group. Also, the ApaI C allele, Taq1 AA genotype and A allele, Cdx2 CC genotype and C allele are associated with increased triglyceride, total cholesterol, LDL-cholesterol levels in patients with BMI>=25. When examining the relationship between VitD3 levels and clinical profiles in all PCOS patients, regardless of BMI distinction, it is determined that there is a positive correlation between LDL-cholesterol and ftestosterone levels. The present findings suggest that VDR variants are one of the most important risk factors for PCOS, especially for patients with BMI>=25.

In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (BCL11A), HBS1L-MYB transcriptional GTPase intergenic region (HBS1L-MYB), Krüppel-like factor 1 (KLF1), haemoglobin gamma subunit 2 (HBG2), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 (HBBP1) are often associatedwith elevatedHbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL.We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentrationwas higher in patients than in the reference group (4.4%vs 1.4%), and 75%(n = 36) of thepatientshadHbF>2.5%.Unfavourable prognosis ALL was established in 68.8% (n = 33) of the patients. Variant HBG2 rs7482144 was associated with high HbF concentration (P = 0.015); while HBS1L-MYB rs9399137 (P = 0.001), HBG2 rs7482144 (P = 0.001) and the β-globin genes HBG2, HBG1, and HBPP1 haplotypeTGC(P = 0.017) with unfavourable prognosisALL.Additionally, variantBCL11A rs4671393 showed a protective role (P = 0.0001). In conclusion, variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 may play a significant role in ALL.

This article aimed to detect the existence of barley-specific Nikita and Sukkula retrotransposons in domestic geese samples and to evaluate the evolutionary relationships between these and other transposons belonging to the family Anatidae. Inter-retrotransposonamplified polymorphism-polymerase chain reaction (IRAP-PCR) method was performed for these retrotransposons movements in three diverse domestic goose populations (Chinese x Embden crossbred, Turkish White, and Turkish Multicolor). Polymorphism ratios were between 0 and 33% in all samples for Nikita and 0-73% in all samples for Sukkula. In addition, intrapopulation genetic polymorphism rates were also 0-15% in Chinese x Embden crossbred, 0-25% in Turkish White, 0-25% in Turkish Multicolor for Nikita; while 0-27% in Chinese x Embden, and 0-50% in Turkish Multicolor for Sukkula. There was no polymorphism for Sukkula among Turkish White samples. Moreover, the neighbour-joining method was used for phylogenetic tree construction using 38 sequences of different ducks, geese, and swans. In silico analyses supported the transitions of retrotransposons in the family Anatidae. It is concluded that transposon mobility among the phylogenetically distant species may lead to understanding evolutionary relationships. This report is one of the first studies investigating retrotransposon movements in domestic geese, revealing a new perspective on the goose genome regarding mobile genetic elements.

Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., thoughthey are unworkable without sequences of genomic DNA of an organism. The terrestrial mollusks’ genomes would benefit gastropodbiology investigations, that are unavailable so far due to problems in DNA integrity and quality after the isolation procedures. Here wedescribe a fast and handy protocol for genomic DNA extraction from the tissues of Helix lucorum, which allows to yield high-qualitysamples applicable for downstream analysis such as high-throughput DNA sequencing. Troubleshooting revealed the nuclease activity ofsnail tissue lysate, which may be avoided by heating the lysate and decreasing the incubation time.

The Brownstripe Snapper, Lutjanus vitta (Quoy and Gaimard, 1824) is a commercially important snapper extensively caught in Malaysia. We examined genetic diversity, population connectivity, and historical demographics of the L. vitta, off the eastern coast of peninsular Malaysia based on an 817 bp region of the mtDNA control region sequences. Maximum likelihood gene trees demonstrated that the populations under study had limited structuring and formed a single panmictic population that lacks support for internal clades. AMOVA and population pairwise Φ_ST values indicated high genetic exchange between the study areas. A high level of haplotype diversity (0.956-1.000) with low nucleotide diversity (0.008-0.014) indicates a recent expansion of L. vitta populations. However, both neutrality and goodness of fit tests revealed nonsignificant values. These data reflect a recent demographic expansion, which the Bayesian skyline plot estimates population expansion at 44 Kya. The absence of genetic differentiation can be attributed to spawning patterns, dispersal of egg and planktonic larvae, and the absence of physical barriers, which are typical of other Lutjanus species. The current findings could initiate efficient management strategies for L. vitta along Malaysia and other nearby nations that share the same waterways.

In China, medicinal Paeonia lactiflora with double flowers (DFs) does not produce seeds, yet it possesses significantly higher paeoniflorin content compared with its single-flowered counterpart. The propagation of medicinal P. lactiflora with DFs relies solely on rhizomes. However, due to economic motivations, the rhizomes of medicinal P. lactiflora with single flowers (SFs) are often mixed with those of medicinal P. lactiflora with DFs. This practice results in a mixed population and a subsequent decline in quality. To ensure the quality of medicinal P. lactiflora with DFs, it is essential to develop specific molecular markers for its identification and breeding. The genetic diversity of 30 populations from six species in sect. Paeonia was studied using inter-simple sequence repeat (ISSR) analysis. Specific bands in medicinal P. lactiflora with DFs and medicinal P. lactiflora with SFs were cloned and utilized as distinctive molecular markers for their identification. A total of 244 polymorphic bands were identified from 18 primers. Among these primers, UBC844 displayed the highest genetic diversity (N_e = 1.37, h = 0.23, I = 0.36). Based on the UPGMA and PCA analyses, all species were classified into three clusters. Medicinal P. lactiflora with SFs showed closer proximity to the wild-type species of Paeonia, while it was further apart from medicinal P. lactiflora with DFs. The specific band amplified by UBC836-3 (~431 bp) was exclusive to medicinal P. lactiflora with DFs, while the band amplified by UBC842-7 (~341 bp) was specific to medicinal P. lactiflora with SFs. There are significant genomic disparities between medicinal P. lactiflora with SFs and DFs. Consequently, stable and specific sequence characterized amplified region markers (UBC836-3 and UBC842-7) have been established to effectively differentiate between the two types. This development will substantially enhance the quality and efficiency of medicinal P. lactiflora, thus supporting the growth of the industry. By utilizing these specific molecular markers, breeding experts can select parent plants and shorten the cultivation cycle for new medicinal peony varieties.

Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.

Volunteer wheat is a kind of wheat with weed characteristics, distributed widely in the main wheat-producing areas of China. It seriously damages the yield and quality of cultivated wheat. To study the genetic diversity and population structure within and between volunteer wheat and cultivated wheat (Triticum aestivum L.), 195 volunteer wheat seeds and 29 cultivated wheat seeds were analysed based on 16 pairs of highly-polymorphic microsatellite simple sequence repeats (SSR) primers and a microchip capillary electrophoresis (MCE) detection system. A total of 110 polymorphic alleles were detected by MCE with each pair of primers identifying 2–15 alleles with an average of 6.875 alleles. The polymorphic information content (PIC) ranged from 0.1089 to 0.7843, with an average of 0.5613. Genetic diversity arguments from 224 samples showed that the volunteer wheat was more varied than cultivated wheat. Based on the SSR information, the 224 samples were classified into seven groups, which corresponded to the volunteer wheats and cultivated wheats through principal coordinates analysis (PCA). We propose that the volunteer wheat and cultivated wheat have rather distant phylogenetic relationships. Hence, it is important for wheat breeding to study the genetic relationship between volunteer wheat and cultivated wheat.