一例X染色体结构重排导致DMD疾病

假肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种最常见的进行性肌营养不良疾病，呈X-连锁隐性遗传，主要由DMD基因的缺失、重复及点突变所致，极少数病例是由于染色体结构重排破坏了DMD基因而引起疾病的发生。本文报告了1例经多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)和下一代测序检测后原因未明的、具有典型症状的DMD患者。采用核型分析、FISH分析及三代测序、 Sanger测序综合分析发现，患者存在母源性的X染色体臂间倒位(Chr.X:g.[31939463–31939465del; 31939466–131765063 inv; 131765064–131765067del])半合子变异。由于该变异破坏了DMD基因和HS6ST2基因，因此推测该变异是患者发病的遗传学病因。患者表现肌无力等典型的DMD症状，没有明显的Paganini-Miozzo综合征相关症状。本病例的明确诊断，提示结构重排破坏DMD基因也是导致DMD重要原因之一；常规遗传学...     

Association between VDR Apal Polymorphism and Hip Bone Mineral Density Can Be Modified by Body Mass Index:A Study on Postmenopausal Chinese Women

Osteoporosis is a major public health problem for old people.Genetic factors are considered tobe major contributors to the pathogenesis of postmenopausal osteoporosis.The vitamin D receptor(VDR)gene is a prominent candidate gene for the regulation of postmenopausal bone mass;however,despite exten-sive studies,controversy remains regarding its association with postmenopausal body mineral density(BMD)variation.In this study,a total of 260 healthy postmenopausal Chinese women were genotyped at the VDRApaI locus using polymerase chain reaction(PCR)-restriction fragment length polymorphism (RFLP).Rawhip BMD was significantly associated with VDR ApaI polymorphism with and without adjusting for age(P=0.015 and 0.040,respectively).This genetic effect can explain 3.32% of hip BMD variation.However,the significant association vanished after correcting for both age and body mass index(BMI)(P=0.169).Inaddition,we observed a significant association between VDR ApaI polymorphism with unadjusted BMI(P=0.042)or BMI adjusted for age(P=0.049).The raw hip BMD was also found to be significantly corre-lated with BMI(r=0.517,P=0.0001),with BMI explaining 26.35% of the variation of hip BMD.All of thesefacts prompt us to conclude that the significant association between the VDR ApaI genotype and hip BMDmay be modified by BMI in postmenopausal Chinese women.Our findings may partially explain the earlierinconsistent association results concerning the VDR gene and BMD,and highlight the importance of incorpo-rating covariates such as BMI into osteoporosis association studies.     

The Modulation and Control of the Gecko''''s Foot Movement

1IntroductionAttachment is still a difficult problem in wall-climbing robotics.There are two main types ofattachment mechanisms for wall climbing robots.One issuction,which has major drawbacks.The mechanismrequires the contacting surface being smooth,otherwise itwill be ineffective.This limits adhesion of the suctioncup to relatively smooth,non-porous,non-crackedsurfaces.Another issue associated with suction adhesionis that this method requires time to develop enoughvacuum to generate suffici…