Borresolomon4289

During the past decade, some genetic loci, microdeletion or duplication have been reported to be associated with DWM, such as 9p trisomy, partial deletions of the long arm of chromosome 13, genes ZIC1 and ZIC4 (von Kaisenberg et al. 2000; McCormack et al. 2003; Grinberg et al. 2004). In the present study, we describe a prenatal diagnosis case that a foetus with DWM on ultrasound scanning accepted genetic testing, and it revealed a microduplication of 12p13.33p11.1 and microdeletion of 15q11.2 in 750K single nucleotide polymorphism (SNP) array, while it showed 46,XX,der(8)(8pter→8q2412p10→12qter),i(12)(p10) in karyotyping.Deletion of specific genes present in the long arm of Y chromosome has been identified as the most common genetic cause of defective spermatogenesis. Studies have shown that frequency of Y chromosome microdeletion varies in different geographical location and is related to genetic and environmental influence preponderance. Therefore, the present study was carried out to identify the frequency of Y chromosome microdeletion in the northern region of India and to define subgroup of infertile patients who are critically under more risk of having microdeletion. A total of 292 north Indian infertile males with nonobstructive azoospermia and oligozoospermia were selected for screening the Y chromosome microdeletion. Healthy fertile males (n=100) were also enrolled as control subjects. Frequency of Y chromosome microdeletion in north Indian infertile males was found to be about 8.5%, with azoospermia factor (AZFc) region as the most susceptible region for microdeletion. Comparatively microdeletion is more common in patients with nonobstructive azoospermia than oligozoospermia (9.2% versus 7.1%). Statistical analysis also revealed that patients with hormonal FSH level between 20 and 40 mIU/mL have more chances of harbouring microdeletion. Hence, the present study highlights the importance of screening AZFc region among infertile patients with very high serum FSH value.High-throughput genotyping has become more convenient and cost-effective due to recent advancements in next-generation sequencing (NGS) techniques. Numerous approaches exploring sequencing advances for genotyping have been developed over the past decade, which includes different variants of genotyping-by-sequencing (GBS), and restriction-site associated DNA sequencing (RAD-seq). Most of these methods are based on the reduced representation of the genome, which ultimately reduces the cost of sequencing by many folds. However, continuously lowering the cost of sequencing makes it more convenient to use whole genome-based approaches. In this regard, skim sequencing, where low coverage whole-genome sequencing is used for the identification of large numbers of polymorphic markers cost-effectively. In the present review, we have discussed recent technological advancements, applicability, and challenges of skim sequencing-based genotypic approaches for crop improvement programmes. Skim sequencing is being extensively used for genotyping in diverse plant species and has a wide range of applications, particularly in quantitative trait loci (QTL) mapping, genomewide association studies (GWAS), fine genetic map construction, and identification of recombination and gene conversion events in various breeding programmes. The cost-effectiveness, simplicity, and genomewide coverage will increase the application of skims sequencing-based genotyping. The article summarizes the protocol, uses, bioinformatics tools, its application, and future prospects of skim sequencing in crop improvement.Using an original method, we have received Drosophila melanogaster with a deficiency including a complete sequence of quick-to-court gene. In this report, we describe the behavioural features of this new deletion mutant. There were no serious deviations from the normal mating behaviour in flies with the deletion, but the behaviour of deletion mutants still had some features. Of all the elements, only the frequency of licking significantly increased in mutants. The duration of mating elements did not change in flies with deletion, and the latent period decreased only for following the female and licking. We have found that mutant males produce more courtship song than control males when courting Oregon R females as estimated by the pulse song index. In our experiment, mutant females provoked much less pulse song production by Oregon R males than control females do. Moreover, Oregon R males initiate courtship song towards mutant females later than towards control females. In other words, the study of pulse song production showed that the deficiency in females leads to a decrease in the intensity of courtship of wild-type males, whereas the deficiency in males leads to more intensive care for wild-type females.Improving spikelet number without limiting panicle number is an important strategy to increase rice productivity. In this study, a spikelet number enhancing SPIKE-allele was identified from the aus subtype indica rice, cv. Bhutmuri, which has an identical japonica like corresponding sequence including a retrotransposon sequence, usually absent in indica genotypes, like IR64. An allele-specific singletube PCR-based codominant marker targeting an A/G single-nucleotide polymorphism (SNP) at the 3'UTR was identified for easier genotyping. The yield enhancing ability of the Bhutmuri-SPIKE allele carrying RILs and NILs over IR64-SPIKE allele carrying alleles was due to increased number of filled grains/panicle. More than three times higher abundance of SPIKE transcripts was observed in Bhutmuri and NILs carrying this allele compared with IR64 and its allele carrying NILs. Higher rate of photosynthesis at more than 900 μmolm-2s-1 light intensity and more than six small vascular bundles between the two large vascular bundles in the flag leaves of Bhutmuri and its allele carrying NILs were also observed. The identified SPIKE allele and the marker associated with it will be useful for increasing the productivity of rice by marker-assisted breeding.Congenital deafness is one of the common disorders, with some common genes accounting for most of the cases. One in 1000 children are born with sensorineural hearing loss, and of that 50% are hereditary. In the Mediterranean Europeans, 80% of the nonsyndromic recessive deafness is due to homozygous mutation in GJB2, the 35del G allele. InWestern population, the GJB2 variation have been found in up to 30-40% cases. In Indians, the GJB2 variants have been found in up to 20% cases, mostly from central and southern India. In the present study, DNA was extracted from blood using standard methods. This was used to perform targeted gene capture using a custom capture kit. Multiple genes causing deafness were sequenced by next-generation sequencing to mean >80-100x coverage on Illumina sequencing platform. We found variants in GJB2, WFS1, FGF3, EYA4, MYO7A. and CHD7 genes. Most of these variants were pathogenic and novel, and possibly causative. Deafness is most commonly due to the autosomal dominant genes but in severe cases of early onset deafness, autosomal recessive genes may contribute in our population. GSK-4362676 In selected families of severe prelingual deafness, prenatal diagnosis can be done.Faba bean (Vicia faba L.) is one of the earliest domesticated food legumes after chickpea and pea in the world. It is been produced in many countries including China, Ethiopia, Egypt, northern Europe, the Mediterranean region, central Asia, East Asia, Latin America and as a minor crop in India. The crop is affected by many diseases and alternaria leaf blight (Alternaria spp.) is one of the serious threat to faba bean production. Twenty-five lines of faba bean were selected from three international nurseries and were evaluated at ICARDA-FLRP-Amlaha during 2016-2017 and 2017-2018, to identify resistant lines against alternaria blight disease. A wide range of variation to disease reaction was observed among faba bean genotypes. One faba bean line (S2011-134) found tolerant, six genotypes (S2011-116, FLIP15-139, FLIP15-156, FLIP15-159, FLIP15-164-S2 and FLIP15-169) were found moderately tolerant and 16 genotypes were found susceptible to alternaria blight. The faba bean genotypes showed resistance to the disease scoring (0-9) with high yield as compared to the checks, Giza and Gwalior local. The identified sources of resistance can be utilized in faba bean breeding programmes for the development of disease tolerant cultivars with high yield.Chickpea (Cicer arietinum L.) is an important food legume crop grown in arid and semi-arid regions of the world. In India, kabuli chickpea is grown in central India in ~0.5 million ha, predominantly under short winter ( less then 110 days). Efforts are underway to select promising genotypes at the Food Legume Research Platform (FLRP), Amlaha, located in intensive kabuli chickpea growing area of India. Sixty-four kabuli chickpea lines were evaluated for agronomic traits during 2017-2018 and 2018-2019 crop seasons at FLRP following simple 8 X 8 lattice design with two replications. The analysis of variance over two years revealed significant variation exists for days to flowering, plant height, maturity period, biomass, seed size and seed yield. It was observed that with similar maturity time (106 days), FLIP09-432C produced 2273 kg/ha, which out-yielded the popular variety in central India, JGK-3 by 15%. The breeding lines, FLIP09- 436C, FLIP09-171C, FLIP09-373C and FLIP09-247C were also found promising for earliness (104-110 days), and high yielding with the good yield ability (1003-2273 kg/ha). These promising genotypes for a short duration with good yield have been selected and can be used for various chickpea breeding programmes to develop high yielding varieties in central India.Central obesity and body fat distribution measured by waist circumference (WC) and waist hip ratio (WHR) are good predictors of cardio metabolic adversities independent of overall adiposity. There are substantial evidence that body fat distribution is controlled by genetic factors. Even after accounting for body mass index (BMI), individual variation in body fat distribution is heritable, with estimates ranging from 31-76%. Individuals genetically predisposed to store more fat in visceral depots are at higher risk of developing metabolic complications. Several linkage and genomewide association studies (GWAS) for measures of body fat distribution uncovered numerous loci harbouring genes potentially regulating body fat distribution. Additionally, genes with fat depot specific expression patterns (especially, subcutaneous adipose tissue (SAT) and visceral adipose tissue (VAT)) have provided plausible candidate genes involved in body fat regulation. Further, sexual dimorphism have revealed a remarkable heterogeneity in the genetic regulation of body fat distribution. More than hundred loci have been identified through GWAS, displaying more pronounced effect in females than males, suggesting that both sexes share potentially different biological architecture in traits related to body fat distribution. Moreover, the handful of genes identified by GWAS have been validated in different population groups. This article aims at reviewing the current knowledge of genomic basis of body fat distribution.