基于Linkage Mapper的武汉市生态安全格局构建

城市蓝绿空间对维持城市生态平衡具有重要作用,城市化的快速发展促使生态用地破碎化。文章以武汉市为研究对象,基于“生态源地识别—阻力面构建—生态廊道识别—战略节点识别”框架结合连通性构建生态安全格局。结果表明:①生态源地面积共3053.09 km^(2),空间上多集中于武汉市西北部、东南部和东北部。②阻力因子的选取包括土地利用、地形、人为干扰及生态保护四个方面,运用层次分析法得到各阻力因子权重分别为0.387、0.316、0.109和0.188,结合ArcGIS加权得到综合生态阻力值,在空间上呈现“中间高、四周低”的特征。③基于Linkage Mapper识别出生态廊道21条,共计1223.72 km,生态网络结构α指数为0.43、β指数为1.62、γ指数为0.64,重力模型筛选出的作用力大于15的一级廊道共8条。④识别出548个生态夹点,总面积2.7801 km^(2);473处生态障碍点,总面积8.874 km^(2)。

Cancer epidemiological database linkage study of China:Design,methods,and quality evaluation

To the Editor:Data linkage is a method of identifying and combining information derived from various sources that actually belongs to the same individual or event.[1]In recent years,data linkage has become an increasingly common practice in many countries.The socioeconomic and health benefits of data linkage in the healthcare field can be clearly demonstrated.From the perspective of scientific research,the combination of multidimensional health-related data at the individual level(e.g.,risk factor data,clinical diagnosis and treatment data,community management and follow-up data,disease surveillance data,birth,and vital statistics)and public records(e.g.,environmental monitoring data,motor vehicle crash data,criminal data)can create scientific inspiration in multiple disciplines and spur innovation.From the perspective of health management.

Efficient User Identity Linkage Based on Aligned Multimodal Features and Temporal Correlation

User identity linkage(UIL)refers to identifying user accounts belonging to the same identity across different social media platforms.Most of the current research is based on text analysis,which fails to fully explore the rich image resources generated by users,and the existing attempts touch on the multimodal domain,but still face the challenge of semantic differences between text and images.Given this,we investigate the UIL task across different social media platforms based on multimodal user-generated contents(UGCs).We innovatively introduce the efficient user identity linkage via aligned multi-modal features and temporal correlation(EUIL)approach.The method first generates captions for user-posted images with the BLIP model,alleviating the problem of missing textual information.Subsequently,we extract aligned text and image features with the CLIP model,which closely aligns the two modalities and significantly reduces the semantic gap.Accordingly,we construct a set of adapter modules to integrate the multimodal features.Furthermore,we design a temporal weight assignment mechanism to incorporate the temporal dimension of user behavior.We evaluate the proposed scheme on the real-world social dataset TWIN,and the results show that our method reaches 86.39%accuracy,which demonstrates the excellence in handling multimodal data,and provides strong algorithmic support for UIL.

The Interventional Capacity of Community Health Volunteers for Screening and Linkages of Non-Communicable Diseases in Nyeri County, Kenya

Non-communicable diseases (NCDs) account for 63% of mortalities. Approximately 80% of these NCD-related deaths occur in LMICs. A quasi-experimental study utilizing a non-equivalent pre-and post-test was conducted from May 2022 to March 2023 with 370 study participants. Multistage cluster and random sampling were used to select ten community units, and therefore, 150 CHVs were chosen for the control unit, and 150 were used to form the interventional group. Data was collected from the KOBO app. Six (6) homogenous FGDs comprised ten members, and 10 KII were conducted across study sites. Quantitative data was analyzed using SPSS version 28.0, and qualitative data was audio-recorded, transcribed, and analyzed via N-Vivo 12. The study shows that 59.3% of respondents have minimal information, and 92.7% (n = 139) have no clear understanding of NCDs, with a pre-intervention capacity of 48.8%. Independent sample t-test showed a significant difference in capacity from a pre-intervention average of 48.75 (SD ± 5.7)%, which increased to 68.28 (SD ± 7.6)%, p < 0.001. A well-designed community interventional model plays a pivotal role in grassroots healthcare delivery but requires optimization for NCD management.

Constructing a Triangular Linkage Model of Government Audit,Social Audit,and Internal Audit to Promote High-Quality Development of Audit Services

It is a complex and important topic to study the linkage mechanism of government audit,social audit,and internal audit in the context of China’s high-quality economic development.The implementation of measures,such as establishing a sound and perfect organizational safeguard mechanism,strengthening project collaborative audit mechanism,enhancing the mechanism for utilizing audit results,and establishing an audit and rectification joint mechanism can promote the efficient operation of the audit supervision system and the high-quality development of audit services.

Chronic Hepatitis B in Indian Americans: Lack of Screening and Poor Linkage to Care

Background: Chronic hepatitis B (CHB) is a major cause of liver-related morbidity and mortality in the United States (US) and globally. CHB disproportionately affects Asian Americans and many other immigrant minority populations, primarily owing to the high prevalence of CHB in their countries of origin. India is a country with a medium-to-high prevalence of hepatitis B (HB) (>2%) and has over 40 million people infected with hepatitis B virus (HBV), with more than 115,000 deaths annually from HBV-related complications. Indian Americans are one of the largest immigrant populations in the US but remain underdiagnosed and poorly linked to clinical care. We, therefore, assessed the HBV prevalence and evaluated the linkage-to-care (LTC) among Indian Americans to develop strategic plans to reduce the impact of HBV in the US. Methods: Between April 2022 and January 2024, serologic screening and surveys were provided to 328 Indian American adults (age 20 - 80) in New York City. All participants were tested for a triple panel consisting of hepatitis B surface antigen (HBsAg), hepatitis B surface antibody (anti-HBs), and hepatitis B core IgG antibody (anti-HBc). A survey was conducted on the subjects chronically infected with HBV regarding their histories of infection. Self-administered questionnaires were employed to evaluate demographic and epidemiologic characteristics. Results: Of 328 screened and evaluated (246 males and 82 females), 10 (3.0%) were HBV-infected, 222 (67.7%) were susceptible to HBV, and 96 (29.3%) were immune. The prevalence of chronic HBV varied between the age groups: 4.6% (age 20 - 40), 3.4% (age 41 - 60), and 1.7% (age 61 - 80). Of 10 chronically infected, only two subjects had been previously diagnosed but were not engaged in care. Conclusion: HBV disproportionately affects Asian Americans, primarily owing to immigration from parts of the world where the disease is endemic. Indian Americans belong to an intermediate-risk group, with an HBV prevalence of >2%, but remain underdiagnosed and poorly linked to care. Our pilot study on Indian American populations, the first of its kind, demonstrates a 3% prevalence of CHB, none of whom are linked to care. In addition, this population has a high percentage of unimmune subjects, creating a large reservoir for future infection. With the growing population of Indian Americans, our findings can be used to develop community-based strategies for HBV screenings and LTC that target high-risk groups.

基于MSPA-Linkage Mapper的福州滨海长乐区生态网络构建与优化

构建生态网络是改善城市生态环境和维持生态服务功能的重要举措。以福州市长乐区为例,基于形态空间格局(MSPA)、Linkage Mapper和重力模型提取各级潜在生态廊道及生态节点,构建并优化长乐区生态网络。结果表明:1)基于MSPA识别出所有景观类型,核心区面积最大(245.36 km^(2)),占所有景观类型的73.61%,结合核心源地连通性评价,筛选出11个核心生态源地;2)通过Linkage Mapper、重力模型提取研究区潜在生态廊道共32条,1级廊道11条,2级廊道10条,3级廊道11条,主要分布在研究区南北部纵向连接,尚未形成整体的网络连接;3)采用Barrier Mapper、Pinch point综合识别生态节点,1级生态节点17个,2级生态节点12个、3级生态节点8个,确定各类型生态修复关键区域,提出生态暂歇点建设策略。研究结果为长乐区域生态可持续发展及建设生态保护重点区时序性研究提供参考意义。

基于Linkage Mapper与复杂网络的成都市生态网络构建与优化

城市化速度加快,城镇内部生态斑块破碎,生态廊道隔断,区域可持续发展受到阻碍。构建生态网络可以连接破碎斑块,保护生物多样性与地域特色。以成都市为例,基于形态学空间格局分析(morphological spatial pattern analysis, MSPA)方法并结合景观连通度指数确定生态源地,从地形、景观结构、人类活动三方面确定阻力因子来构建综合阻力面,基于ArcGIS水文分析原理和linkageMapper识别生态廊道和生态节点,利用复杂网络增边优化理论,对研究区处于高阻力值且介中心性低的点进行模拟增边,最后对比增边前后的稳定性,验证增边效果。结果表明:1)成都市生态源地主要分布在西部林区,东部和中部较为稀疏。2)成都市阻力值呈现由中部向外部降低趋势,中心都市圈阻力值最高。3)基于GIS共提取111条生态廊道、209条辐射道、101个生态节点。4)识别出增边优化节点8个,成功模拟增加11条生态廊道,模拟增边优化后网络稳定性明显提升,网络连通性增强,网络结构整体更为稳定。

Effect of internet multiple linkage mode-based extended care combined with in-hospital comfort care on colorectal cancer patients undergoing colostomy

BACKGROUND Patients with colorectal cancer may need postoperative nursing to improve prognosis,and conventional nursing is not effective.Clinical research is needed to explore nursing methods that can more effectively improve postoperative conditions on colorectal cancer patients undergoing colostomy.AIM To explore the effect of internet multiple linkage mode-based extended care combined with in-hospital comfort care on colorectal cancer patients undergoing colostomy.METHODS Data from 187 patients with colostomy treated in our hospital from May 2019 to March 2022 were collected and divided into three groups,A(n=62),B(n=62)and C(n=63),according to different intervention methods.Group A received internet multiple linkage mode-based extended care combined with in-hospital comfort care.Group B received internet multiple linkage mode-based extended care.Group C received usual care intervention.Complications were compared among the three groups.The stoma self-efficacy scale,Hamilton Anxiety Scale,RESULTS The complication rate of group A,B and C(16.13%,20.97%and 60.32%,respectively)was significantly different(all P<0.05).The incidence of complications in groups A and B was lower than that in group C,and there was no significant difference between groups A and B(P>0.05).After intervention,the scores of ostomy care,social contact,diet choice,confidence in maintaining vitality,confidence in self-care of ostomy,confidence in sexual life,confidence in sexual satisfaction and confidence in physical labor in the three groups were all higher than before intervention,and the scores of groups A and B were higher than those of group C,with statistical significance(P<0.05).The Hamilton Anxiety Scale and Hamilton Depression Scale scores of the three groups after intervention were lower than those before intervention.The scores of groups A and B were lower than those of group C,and the score of group A was lower than that of group B,all with statistical significance(all P<0.05).There was a statist-ically significant difference in cancer-induced fatigue among the three groups(P<0.05).After intervention,the scores of physical health,psychological health,social health and mental health of the three groups were lower than before the intervention.The scores of group A and B were lower than that of group C;and the score of group A was lower than that of group B,all with statistical significance(all P<0.05).CONCLUSION Internet multiple linkage mode-based extended care combined with in-hospital comfort care can effectively improve self-efficacy,bad mood,cancer-related fatigue and life quality of colorectal cancer patients undergoing colostomy.

Fragmentation stability and retention time-shift obtained by LC-MS/MS to distinguish sialylated N-glycan linkage isomers in therapeutic glycoproteins

Sialylated N-glycan isomers withα2-3 orα2-6 linkage(s)have distinctive roles in glycoproteins,but are difficult to distinguish.Wild-type(WT)and glycoengineered(mutant)therapeutic glycoproteins,cytotoxic T lymphocyte-associated antigen-4-immunoglobulin(CTLA4-Ig),were produced in Chinese hamster ovary cell lines;however,their linkage isomers have not been reported.In this study,N-glycans of CTLA4-Igs were released,labeled with procainamide,and analyzed by liquid chromatography-tandem mass spectrometry(MS/MS)to identify and quantify sialylated N-glycan linkage isomers.The linkage isomers were distinguished by comparison of 1)intensity of the N-acetylglucosamine ion to the sialic acid ion(Ln/Nn)using different fragmentation stability in MS/MS spectra and 2)retention time-shift for a selective m/z value in the extracted ion chromatogram.Each isomer was distinctively identified,and each quantity(>0.1%)was obtained relative to the total N-glycans(100%)for all observed ionization states.Twenty sialylated N-glycan isomers with onlyα2-3 linkage(s)in WT were identified,and each isomer's sum of quantities was 50.4%.Furthermore,39 sialylated N-glycan isomers(58.8%)in mono-(3 N-glycans;0.9%),bi-(18;48.3%),tri-(14;8.9%),and tetra-(4;0.7%)antennary structures of mutant were obtained,which comprised mono-(15 N-glycans;25.4%),di-(15;28.4%),tri-(8;4.8%),and tetra-(1;0.2%)sialylation,respectively,with onlyα2-3(10 N-glycans;4.8%),bothα2-3 andα2-6(14;18.4%),and onlyα2-6(15;35.6%)linkage(s).These results are consistent with those forα2-3 neuraminidase-treated N-glycans.This study generated a novel plot of Ln/Nn versus retention time to distinguish sialylated N-glycan linkage isomers in glycoprotein.

Construction of a high-density SSR genetic linkage map and identification of QTL for storage-root yield and dry-matter content in sweetpotato

Sweetpotato(Ipomoea batatas(L.)Lam.)is a widely grown food crop especially in developing countries.Increasing storage-root yield and dry-matter content has been the main breeding objective of the crop,and DNA marker-assisted breeding is needed for this purpose.In this study,using a mapping population of 500 F1 individuals from a cross between Xushu 18(female)and Xu 781(male),we constructed a highdensity genetic linkage map of sweetpotato using 601 simple-sequence repeat(SSR)primer pairs.The Xushu 18 map contained 90 linkage groups with 5547 SSR markers and spanned 18,263.5 cM,and the Xu 781 map contained 90 linkage groups with 4599 SSR markers and spanned 18,043.7 cM,representing the highest genome coverage yet reported for sweetpotato.We identified 33 QTL for storage-root yield and 16 QTL for dry-matter content,explaining respectively 6.5%–47.5%and 3.2%–18.9%of variation.These results provide a foundation for fine-mapping and cloning of QTL and for marker-assisted breeding in sweetpotato.

Identification of the candidate gene controlling tiller angle in common wheat through genome-wide association study and linkage analysis

Wheat tiller angle(TA)is an important agronomic trait that contributes to grain production by affecting plant architecture.It also plays a crucial role in high-yield wheat breeding.An association panel and a recombinant inbred line(RIL)population were used to map quantitative trait loci(QTL)for TA.Results showed that 470 significant SNPs with 10.4%–28.8%phenotypic variance explained(PVE)were detected in four replicates by a genome-wide association study(GWAS).Haplotype analysis showed that the TA_Hap_4B1 locus on chromosome 4B was a major QTL to regulate wheat TA.Ten QTL were totally detected by linkage mapping with the RIL population,and QTA.hau-4B.1 identified in six environments with the PVE of 7.88%–18.82%was a major and stable QTL.A combined analysis demonstrated that both TA_Hap_4B1 and QTA.hau-4B.1 were co-located on the same region.Moreover,QTA.hau-4B.1 was confirmed by bulked segregant RNA-Seq(BSR-Seq)analysis.Phenotypic analysis showed that QTA.hau-4B.1was also closely related to yield traits.Furthermore,Traes CS4B02G049700 was considered as a candidate gene through analysis of gene sequence and expression.This study can be potentially used in cloning key genes modulating wheat tillering and provides valuable genetic resources for improvement of wheat plant architecture.

Study on the disaster caused by the linkage failure of the residual coal pillar and rock stratum during multiple coal seam mining:mechanism of progressive and dynamic failure

Multi-seam mining often leads to the retention of a significant number of coal pillars for purposes such as protection,safety,or water isolation.However,stress concentration beneath these residual coal pillars can significantly impact their strength and stability when mining below them,potentially leading to hydraulic support failure,surface subsidence,and rock bursting.To address this issue,the linkage between the failure and instability of residual coal pillars and rock strata during multi-seam mining is examined in this study.Key controls include residual pillar spalling,safety factor(f.),local mine stiffness(LMS),and the post-peak stiffness(k)of the residual coal pillar.Limits separating the two forms of failure,progressive versus dynamic,are defined.Progressive failure results at lower stresses when the coal pillar transitions from indefinitely stable(f,>1.5)to failing(f,<1.5)when the coal pillar can no longer remain stable for an extended duration,whereas sud-den(unstable)failure results when the strength of the pillar is further degraded and fails.The transition in mode of failure is defined by the LMS/k ratio.Failure transitions from quiescent to dynamic as LMS/k.<1,which can cause chain pillar instability propagating throughout the mine.This study provides theoretical guidance to define this limit to instability of residual coal pillars for multi-seam mining in similar mines.

Genetic linkage mapping and QTL identification for salinity tolerance in Indian mustard(Brassica juncea L.Czern and Coss.)using SSR markers

Soil salinity is one of the major environmental constraints that limits crop yield and nearly 7%of the total area worldwide is affected by salinity.Salinity-induced oxidative stress causes membrane damage during germination and seedling growth.Indian mustard is a major oilseed crop in India and its production and productivity are severely affected by salt stress.Breeding Brassica cultivars for salinity tolerance by conventional means is very difficult and time-consuming.Therefore,understanding the molecular components associated with salt tolerance is needed to facilitate breeding for salt tolerance in Brassica.In this investigation,quantitative trait loci(QTLs)associated with salt tolerance were identified using F_(2:3)mapping population developed from a cross between CS52(salinity tolerant)and RH30(salinity sensitive).Parents and F_(2:3)were evaluated under controlled and salinity stress conditions for 14 morpho-physiological traits for two consecutive generations(F2 and F_(2:3)),explaining proportion of the phenotypic variance under control condition.Simple sequence repeat(SSR)markers were used for mapping studies.A genetic linkage map based on 42 simple sequence repeats(SSRs)markers was constructed covering 2298.5 cM(Haldane)to identify the loci associated with salt tolerance in Brassica juncea.Forty-one SSRs showing polymorphism in the parents(CS52 and RH30)were mapped on 8 linkage groups(C1–C8).One marker(nga 129)did not map to any of the linkage group and was excluded from mapping.Linkage group 5(C5;317.9 cM)was longest and linkage group 1(C1,255.0 cM)was shortest.Further,we identified 15 QTLs controlling 8 traits using F_(2:3)population.These QTLs explained 12.44–60.63%of the phenotypic variation with a LOD score range of 3.62–5.97.Out of these QTLs,QMI4.1 related to membrane injury showed 51.28%phenotypic variance with a LOD score of 3.34.QTL QBYP8.1 related to biological yield per plant showed 60.63%phenotypic variance at a LOD score of 3.62.The highest LOD score of 5.97 was recorded for QTL related to seed yield per plant(QSYP4.1).Major QTLs were QTL for biological yield per plant(QBYP8.1),QTL for siliquae per plant(QSP4.1),QTL for primary branches(QPB4.1),QTLs for seed per siliqua(QSS4.1,QSS4.2),QTL for seed yield per plant(QSYP4.1),and QTL for membrane injury(QMI8.1)which showed more than 50%phenotypic variance.These QTLs identified in our study need to be confirmed in other populations as well so that these can be used in marker-assisted selection and breeding to enhance salt tolerance in Brassica juncea.

A Study on the Interest Linkage Mechanism of the Taxus Industry Chain in Pengshui Miao and Tujia Autonomous County

At the Taxus base of Pengshui Miao and Tujia Autonomous County,Chongqing,the comprehensive development and utilization of Taxus was carried out with seedling cultivation,understory economy,product processing,ecotourism and other aspects as the main line.The benefit linkage mechanism of the operation of the Taxus industrial chain was explored and analyzed,so as to extend and supplement the Taxus industrial chain.The two models of"company+farmer"and"company+village collective+farmer"are relatively close benefit linkage models,which indirectly promote the increase of farmers income and smoothly guarantee the operation of the industrial chain,thereby playing a positive role during the development of the Taxus industry.This study provides reliable countermeasures and suggestions for the sustained and healthy development of the Taxus industry in Pengshui County.

Evolution of economic linkage network of the cities and counties on the northern slope of the Tianshan Mountains,China

The exchanges between cities and counties in the northern slope economic belt of Tianshan Mountains(NSEBTM)are increasingly frequent and the economic linkages are increasingly close,but the spatial distribution of economic development and linkages among the cities and counties within NSEBTM is uneven.Therefore,it is of great significance to study the evolution of spatial-temporal pattern of the economic linkage network of cities and counties on NSEBTM to promote the coordinated and integrated development of the regional economy on NSEBTM.In this study,we used the modified gravity model and social network analysis method to analyze the spatio-temporal evolution characteristics of the economic linkage network structure of cities and counties on NSEBTM in 2000,2010,and 2020.The results showed that the comprehensive development quality level of cities and counties on NSEBTM increased from 2000 to 2020,its growth rate also increased,and its gap between cities and counties continued expanding.Both the spatial distribution patterns of the comprehensive development quality level of cities and counties on NSEBTM in 2000 and 2010 were presented as“high in the middle and low at both ends”,while the spatial distribution pattern of 2020 was exhibited as“high value and low value staggered”.The total amount of external economic linkages of cities and counties on NSEBTM showed an obvious upward trend,and its gap between cities and counties continued expanding,presenting a pattern of“a strong middle section and weak ends”.The direction of economic linkages of NSEBTM existed obvious central orientation and geographical proximity.The density of economic linkage network of NSEBTM increased from 2000 to 2020,and the structure of economic linkage network changed from single-core structure centered with Urumqi City to multicore structure centered with Urumqi City,Karamay City,Shihezi City,and Changji City,shifting from unbalanced development to balanced development.In the future,we should accelerate the construction of urban agglomeration on NSEBTM,cultivate a modern Urumqi metropolitan area,improve comprehensive development quality of the cities and counties at the eastern and western ends,strengthen the intensity of economic linkages between cities and counties,optimize the economic linkage network,and promote the coordinated and integrated development of regional economy.

Price linkage between Chinese and international nonferrous metals commodity markets based on VAR-DCC-GARCH models

Using VAR-DCC-GARCH model,the literature on commodity price was extended by exploring the co-movement between Chinese nonferrous metal prices and global nonferrous metal prices represented by the nonferrous metal prices from London Metal Exchange(LME).The results show that LME nonferrous metals prices still have a greater impact on Chinese nonferrous metals prices.However,the impact of Chinese nonferrous metals prices on LME nonferrous metals prices is still weak except for lead price.The co-movement of nonferrous metal prices between LME and China presents hysteretic nature,and it lasts for 7-8trading days.Furthermore,the co-movement between LME nonferrous metals prices and Chinese nonferrous metals prices has the characteristics of time-varying,and the correlation of lead prices between LME and China is the more stable than all other nonferrous metals prices.

Rapid Constructing a Genetic Linkage Map by AFLP Technique and Mapping a New Gene tms5

In this study, we reported the repaid construction of a molecular marker linkage map of rice (Oryza sativa L.). An F-2 population from the cross between Annong S-1 and Nanjing 11 was used to construct a genetic linkage map of rice. Total of 142 newly screened AFLP markers and 30 anchor markers (25 SSR markers and 5 RFLP markers) were mapped on the 12 chromosomes covering 1537.4 cM of rice genome. The average interval between these markers was 9.0 cM. The total work which usually was finished in more than one year was finished within only 3 months by one person. This is the first plant AFLP map developed in China. A new thermosensitive genic male sterile gene in rice, tms5, was Egged and mapped onto chromosome 2 during the development of the linkage map.

Genetic Analysis and Linkage Mapping in a Resource Pig Population Using Microsatellite Markers

The use of markers and linkage map construction are important for QTL mapping in pigs. In this article, the genetic characteristics were studied and the linkage map was constructed in a pig resource population including 214 individuals by typing 39 microsatellite marker loci on Sus scrofa chromosomes, SSC4, SSC6, SSC7, SSC8, and SSC13. Results indicated that the average allele number, the average observed beterozygosity （Ho）, and the average polymorphism information content （PIC） in F1 and F2 population were 3.2, 0.528, 0.463 and 3.2, 0.496, 0.447, respectively. In the pig resource population, the average informative meiosis （IM） was 217.4 （44-316）, and the average linkage map length between the two sexes on the five chromosomes were 172.3 cM （SSC4）, 168.7 cM （SSC6）, 191.7 cM （SSC7）, 197.3 cM （SSC8）, and 178.3 cM （SSC13）. The orders of microsatellite marker loci in the linkage maps were identical to, but the length was greater than, those of USDA-MARC reference map. The results of this research showed the genetic relationship and genetic characteristics of the microsatellite markers in the pig resource family population, and the linkage map could be used to for QTL mapping in the subsequent study.

Molecular Genetic Diagnostics of Prader-Willi Syndrome:a Validation of Linkage Analysis for the Chinese Population

Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13 region. Clinical symptoms are difficult to diagnose in infants and only become clearer at later ages as the patients develop hyperphagia and morbid obesity. Molecular genetic tests are able to definitively diagnose PWS and allow early diagnosis of the syndrome. High resolution cytogenetic testing, methylation-specific PCR （MS-PCR）, and linkage analysis are routinely used to diagnose PWS. To establish a linkage analysis method for Chinese patients, this study identified a useful set of STR markers in the typical PWS deletion and adjacent area, for linkage analysis in two Chinese families with PWS offspring. Using this method, the authors confn＇rned that one patient had a paternal deletion in chromosome 15q 11-q 13 and the other patient had maternal uniparental heterodisomy of chromosome 15. MS -PCR and high resolution chromosome G-banding also confirmed this diagnosis. This linkage analysis method can detect both deletion and uniparental disomy, thus providing valuable information for genetic counseling and the opportunity to analyze the relationship between the genotype and phenotype of PWS.