Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province,China

Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

Upper-mantle velocity structures beneath the Tibetan Plateau and surrounding areas inferred from triplicated P waveforms

P-wave waveforms in the distance range between 12°and 30°were analyzed to investigate upper-mantle P velocity structures beneath the Tibetan Plateau and surrounding areas.The waveform data from 504 earthquakes with magnitudes larger than 5.0 between 1990 and 2005 that occurred within 30°from the center of the Plateau were modelled.We divided the study area into 6 regions and modeled upper-mantle-distance P waveforms with turning points beneath each region separately.The results show that the uppermantle P-wave velocity structures beneath India,the Himalayas,and the Lhasa Terrane are similar and contain a high-velocity lid about 250 km thick.The upper-mantle velocities down to 200 km beneath the Qiangtang Terrane,the Tarim Basin,and especially the Songpan-GarzêTerrane are lower than those in the south.The 410-km discontinuity beneath these two terranes is elevated by about 20 km.Highvelocity anomalies are found in the transition zone below 500 km under the Lhasa and Qiangtang Terranes.The results suggest that the Tibetan Plateau was generated by thrusting of the Indian mantle lithosphere under the southern part of Tibet.Portions of the thickened Eurasian mantle lithosphere were delaminated;they are now sitting in the transition zone beneath southern Tibet and atop of the 410-km discontinuity underneath northern Tibet.

Spatial variations of the 660-km discontinuity in the western Pacific subduction zones observed from CEArray triplication data

We examined the spatial variation of velocity structures around the 660-kin discontinuity at the western Pacific subduction zones by waveform modeling of triplication data. Data from two deep earthquakes beneath Izu-Bonin and Northeast China are used. Both events were well recorded by a dense broadband seismic network in China （CEArray）. The two events are located at approximately the same distance to the CEArray, yet significant differences are observed in their records： （1） the direct arrivals traveling above the 660-km discontinuity （AB branch） are seen in a different distance extent： -29° for the NE China event, -23° for Izu-Bonin event; （2） the direct （AB） and the refracted waves at the 660-km （CD branch） cross over at 19.5° and 17° for the NE China and the Izu-Bonin event, respectively. The best fitting model for the NE China event has a broad 660-km discontinuity and a constant high velocity layer upon it; while the Izu-Bonin model differs from the standard IASP91 model only with a high velocity layer above the 660-km discontinuity. Variations in velocity models can be roughly explained by subduction geometry.

Experimental implementation of phase triplicator gratings in a spatial light modulator

In this work,we compare different methods for implementing a triplicator,a phase grating that generates three equiintense diffraction orders.The design with optimal efficiency features a continuous phase profile,which cannot be easily reproduced,and is typically affected by quantization.We compare its performance with binary and sinusoidal phase profiles.We also analyze the effect of quantizing the phase levels.Finally,a random approach is adopted to eliminate the additional harmonic orders.In all cases,a liquid-crystal-on-silicon spatial light modulator is employed to experimentally verify and compare the different approaches.

Upgraded durian genome reveals the role of chromosome reshuffling during ancestral karyotype evolution,lignin biosynthesis regulation,and stress tolerance

Durian(Durio zibethinus)is a tropical fruit that has a unique flavor and aroma.It occupies a significant phylogenetic position within the Malvaceae family.Extant core-eudicot plants are reported to share seven ancestral karyotypes that have undergone reshuffling,resulting in an abundant genomic diversity.However,the ancestral karyotypes of the Malvaceae family,as well as the evolution trajectory leading to the28 chromosomes in durian,remain poorly understood.Here,we report the high-quality assembly of the durian genome with comprehensive comparative genomic analyses.By analyzing the collinear blocks between cacao and durian,we inferred 11 Malvaceae ancestral karyotypes.These blocks were present in a single-copy form in cacao and mainly in triplicates in durian,possibly resulting from a recent whole genome triplication(WGT)event that led to hexaploidization of the durian genome around 20(17–24)million years ago.A large proportion of the duplicated genes in durian,such as those involved in the lignin biosynthesis module for phenylpropane biosynthesis,are derived directly from whole genome duplication,which makes it an important force in reshaping its genomic architecture.Transcriptome studies have revealed that genes involved in feruloyl-Co A formations were highly preferentially expressed in fruit peels,indicating that the thorns produced on durian fruit may comprise guaiacyl and syringyl lignins.Among all the analyzed transcription factors(TFs),members of the heat shock factor family(HSF)were the most significantly upregulated under heat stress.All subfamilies of genes encoding heat shock proteins(HSPs)in the durian genome appear to have undergone expansion.The potential interactions between HSF Dzi05.397 and HSPs were examined and experimentally verified.Our study provides a high-quality durian genome and reveals the reshuffling mechanism of ancestral Malvaceae chromosomes to produce the durian genome.We also provide insights into the mechanism underlying lignin biosynthesis and heat stress tolerance.