Haplotype and Genetic Analysis of 41 Y-STR Loci in the Wuwei Han Population from Gansu Province,China

Objective Y-Chromosomal short tandem repeat polymorphism(Y-STR)analysis plays an indispensable role in the identification of male individuals,population genetics,and biogeographic research.While profiles of many populations based on Y-STR markers in human genomes are ample,haplotype data for the Wuwei Han are still scarce.Methods In this study,2180 unrelated Wuwei Han male individuals residing in Gansu Province,China were collected and genotyped using the novel Microreader™40Y Plus ID system.Phylogenetic relationship reconstructions,multidimensional scaling(MDS),and heatmap analysis were performed based on the genetic distance(Rst)values between our studied population and other populations of the Ymax module in the Y-STR Haplotype Reference Database(YHRD).Results A total of 2129 unique haplotypes were obtained,and the haplotype diversity(HD)and discrimination capacity(DC)for the Wuwei Han were 0.9999 and 0.9931,respectively.Conclusion Our results demonstrate that the Wuwei Han population had intimate genetic relationships with East Asians,especially the geographically close Han populations.Overall,this Y-Chromosomal assay gives valuable information about paternal lineages in male individual tracking and genealogical database construction.

CONSTRUCTING ADENO-ASSOCIATED VIRUS-TGFβ_3 AND COMPARING ITS BIOLOGICAL EFFECT ON PROTEOGLYCAN SYNTHESIS IN DEDIFFERENTIATED NUCLEUS PULPOUS CELLS WITH ADENOVIRUS-TGFβ_1

Objective To construct adeno-associated virus (AAV) expression system for transforming growth factor β3 (TGFβ3) and detect its biological effect on proteoglycan synthesis of the earlier and later dedifferentiated rabbit lumbar disc nucleus pulpous (NP) cells, which was compared with that of adenovirus (AV) expression system for TGFβ1. Methods TGFβ3 gene was obtained using PCR. Its upstream contained restriction enzyme site Kpn Ⅰ, and its downstream contained restriction enzyme site SalⅠ. Using the restriction enzyme sites of PCR product of TGFβ3 and the corresponding multiple cloning site (MCS) in plasmid AAV, TGFβ3 was subcloned into AAV. The recombinant plasmid AAV-TGFβ3 was transfected into H293 cells with LipofectamineTM 2000, and the expression of TGFβ3 gene was detected using immunofluorescent analysis. After AAV-TGFβ3 virus particle with infectious activity was packaged, TGFβ3 expression in NP cells was detected by immunoblotting, and its biological effect on proteoglycan synthesis was detected by antonopulos method and compared with that of AV-TGFβ1 in the earlier and later dedifferentiated NP cells. Results For the earlier dedifferentiated NP cells, AAV-TGFβ3 slowly and stably enhanced proteoglycan synthesis, but AV-TGFβ1 rapidly and transiently enhanced its synthesis. For the later dedifferentiated NP cells, AAV-TGFβ3 stably enhanced proteoglycan synthesis, but AV-TGFβ1 inhibited its synthesis. Conclusion AAV expression system can mediate TGFβ3 gene to be expressed stably, and AAV-TGFβ3 can enhance proteoglycan synthesis of the earlier and later dedifferentiated NP cells.

Spinal Cord Kinking in Thoracic Myelopathy Caused by Ossification of the Ligamentum Flavum

Background：Ossification of the ligamentum flavum （OLF） is being increasingly recognized as a cause of thoracic myelopathy.This study was to describe a rare clinical entity of spinal cord kinking （SK） in thoracic myelopathy secondary to OLF.Methods：The data of 95 patients with thoracic myelopathy secondary to OLF were analyzed retrospectively.The incidence and location of SK were determined using preoperative magnetic resonance imaging （MRI）.The clinical presentation and radiological characteristics in patients with SK were analyzed.Posterior en bloc laminectomy with OLF was performed,and the surgical results were evaluated.Results：SK was found in seven patients （7.4％） based on preoperative MRI.The patients included one male and six females with an average age of 55.6 years （range,48-64 years）.Five patients presented with radiculomyelopathy and two presented with typical thoracic myelopathy of spastic paraparesis.In all cases,the kinking was located just above the end of the spinal cord where the conus medullaris （CM） was compressed by the OLF.The degree of SK varied from mild to severe.The tip of the CM was located between the upper third of T1 1 to the lower third of L 1,above the lower edge of L 1.With an average follow-up of 30.4 months,the modified Japanese Orthopedic Association score significantly improved from 5.7 ± 1.8 preoperatively to 8.9 ± 1.4 postoperatively （t =12.05;P ＜ 0.0001） with an improvement rate of 63.1 ± 12.3％.Conclusions：SK is a rare radiological phenomenon.It is typically located at the thoracolumbar junction,where the CM is compressed by the OLF.Our findings indicate that these patients may benefit from a posterior decompressive procedure.