骨质疏松的分子遗传学研究进展

骨质疏松是导致老年性骨折的常见疾病，遗传因素在骨质疏松的发病机理中占有重要地位。本文从分子遗传学角度简述了维生素D受体基因、雌激素受体基因、Ⅰ型胶原α链基因，甲状旁腺素,钙素受体基因，转化生长因子β基因等基因多态性与骨质疏松之间关系。     

人格障碍的分子遗传学研究进展

人格障碍的病因目前仍不十分清楚 ,有关研究多集中在遗传、精神生物学、心理社会因素和文化因素等方面。近年来 ,人类在遗传学领域的研究取得了突飞猛进的发展 ,使人们对多种疾病 ,包括精神疾病的遗传学有了进一步的了解。人格障碍的遗传学研究亦越来越受到研究者的重视。已有许多研究证实 ,人格障碍受遗传因素的影响[1-4 ] 。既然遗传在人格障碍的形成中起了作用 ,那是否能找出相关的基因呢 ?随着分子生物学技术的迅猛发展 ,人格障碍的分子遗传学研究也有了很大进展。下面分别综述人格障碍在分子遗传方面的进展。1　 5-ＨＴ基因与人格障碍5…     

骨质疏松的分子遗传学研究进展

骨质疏松是导致老年性骨折的常见疾病 ,遗传因素在骨质疏松的发病机理中占有重要地位。本文从分子遗传学角度简述了维生素 D受体基因、雌激素受体基因、I型胶原α链基因、甲状旁腺素基因、降钙素受体基因、转化生长因子β基因等基因多态性与骨质疏松之间关系     

阿片类物质依赖分子遗传学研究进展

阿片类物质依赖虽然与许多社会化背景有关，但其形成过程显然离不开个体的人体特征和生物易感性，近年分子遗传学的研究证据有助于阐明阿片类物质依赖形成的生物机制。     

缺血性脑血管病的分子遗传学研究进展

已有的研究表明缺血性脑血管病（ｌｓｃｈｅｍｉｃ ｃｅｒｅｂｒａｌ ｖａｓｃｕｌａｒ ｄｉｓｅａｓｅｓ，ＩＣＶＤ）是多基因遗传病。本综述了载脂蛋白（Ａｐｏ）基因、凝固／纤维蛋白分解基因（ＰＡＩ－１）和血管紧张素转换酶（ａｎｇｉｏｔｅｎｓｉｎ ｃｏｖｅｒｔｉｎｇ ｅｎｚｙｍｅ，ＡＣＥ）基因与ＩＣＶＤ的关系。     

乳腺癌相关基因的分子遗传学研究进展

对乳腺癌分子发病机理的研究已取得不少进展。其中涉及多种基因异常，包括易感基因、癌基因、抑癌基因等，对于乳腺癌的诊断、治疗及预后判断均具有提示作用。乳腺癌易感基因，尤其是BRCA的异常在乳腺癌发病中更具意义。     

精神分裂症的分子遗传学研究进展

精神分裂症的流行病学研究提示了遗传因子的作用,但精神分裂症的分子遗传学研究至今尚未发现导致该病的主要的、特异性的基因。连锁（linkage）和关联（association）研究几乎都得出阴性或有争议的结果,这些研究主要涉及某些侯选基因,如多巴胺受体基因和其它脑神经递质基因,目前,有些侯选基因已被排除作为精神分裂症的特异性病因学因素。最近大多数实验结果提示：精神分裂症的遗传易感性极可能是多基因的,其作用效果依赖于生理、心理、环境因素的相互作用。     

喉癌分子细胞遗传学研究进展

喉癌的研究在过去的几年中取得了一定的进展，多种分子细胞遗传学技术的应用使我们发现了很多与喉癌密切相关的基因和蛋白质，极大地丰富了喉癌相关的分子细胞遗传学的知识，本文将对喉癌相关研究的最新进展加以综述。     

热休克蛋白的分子遗传学研究进展

热休克蛋白是一组在进化上高度保守的蛋白质,是细胞在各种不利于自的因素因素刺激下所表现的一种以因素达和计控方面发生改变的反应,通过此种方式,诱导热休克蛋白的产生而启动内源性保护机制,本主要从细胞和分子水平上扼要介绍热休克蛋白的分子遗传学研究进展及其在整形外科方面的应用。     

青光眼分子遗传学的研究进展

青光眼 (glaucoma) 分子遗传学的研究是当前眼科学领域的重要课题,一些青光眼的致病位点和相关基因相继定位于相应的染色体上,并进行基因的克隆、测序、表达、调控及突变分析。目前报道过的与青光眼相关的基因有：TIGR/MYOC基因、OPTN基因、CYP1B1基因、WDR36基因、OPA1基因和LMX1B 基因等,相关的位点有：GLCA、GLCB、GLCC、GLCD、GLCE、GLCF、GLCG、GLC3A等,此文就相关基因的发现、定位、结构、编码产物和突变研究做一综述。     

精神分裂症的分子遗传学研究进展

群体遗传学研究表明,精神分析症具有肯定的遗传倾向。现代分子生物学技术的发展使进一步寻找该病的易感基因成为可能。本文就国际近年来关于精神分裂症遗传研究的一些结果进行综述;⑴该病遗传度约为６０％￣８０％,标准化诊断及症状量表为主要的表型界定工具;⑵基因组扫描及候选基因筛选查为目前主要的研究手段,受累同胞对分析法（ａｆｆｅｃｔｅｄ ｓｉｂ－ｐａｉｒ,ＡＳＰ）及传递不平衡检验（ｔｒａｎｓｍｉｓｓｉｏｎ ｄｉｓｅｑｕｉｌｉｂｒｉｕｍ ｔｅｓｔ,ＴＤＴ）为目前较理想的统计分析方法;⑶目前研究发现具有独立重复的阳性区域主要集中在６ｐ、２２ｑ和８ｐ,候选基因的阳性结果主要涉及５－ＨＴ２Ａ受体、ＤＲＤ３及ＮＴ－３等。进一步研究途径包括：更准确的表型界定、引入可靠的生物学标记、扩大样本量、发展更高效能的统计学方法以及实验室新技术的     

面肩肱型肌营养不良症的分子遗传学研究进展

面肩肱型肌营养不良症（factoscapulohumeral muscular dystrophy,FSHD)呈常染色体显性遗传。大多数致病基因定位于4q35,存在遗传异质性。发现与FSHD相关的DNA重组,即4q35上3．3kb串联重复单位呈不同拷贝数缺失。以p13E-11为探针检测EcoR I/Bln I双重消化的DNA片段,FSHD患者的消化片段通常小于正常人,从而进行有效的分子诊断。由于FSHD基因尚未鉴定与分子,FSHD的确切发病机理仍未阐明,提出有位置效应变异假说等。目前有一候选基因FRG1。与FSHD相关的DNA重组片段的大小与FSHD临床表型之间显著相关,可较好地解释FSHD患者广泛的临床变异性。     

髋关节发育不良的分子遗传学研究进展

流行病学研究证实遗传因素在发育性髋关节发育不良(developmental dysplasia of the hip,DDH)发病中具有重要作用.研究发现67.88%的DDH与遗传因素有关,32.12%的DDH与环境因素有关.目前有关该病诊断和治疗方面的研究已得到不断发展,但在遗传病因学方面仍未有明确结论.本文就髋关节发育不良候选基因及其定位研究的进展作一简要综述.     

The genetics of osteoporosis: 'complexities and difficulties'

Osteoporosis is characterized by a decrease in bone mass as well as a deterioration of the bone architecture resulting in an increased risk of fracture. Although the disease is multifactorial, twin studies have shown that genetic factors account for up to 80% of the variance in bone mineral density, the best known predictor of the risk of osteoporosis. Some loci, such as the vitamin D and estrogen receptor genes, as well as the collagen type Ialpha1 locus, are promising genetic determinants of bone mass, and possibly other bone phenotypes, but this is controversial and the molecular basis of osteoporosis remains largely undefined. Considering that the effect of each candidate gene is expected to be modest, discrepancies between allelic association studies may have arisen because different populations carry different genetic backgrounds and exposure to environmental factors. Also, we realize the importance of gene-gene as well as gene-environment interactions as significant determinants of bone density and risk of osteoporosis. The use of new tools such as small nucleotide polymorphism maps now allows the possibility to perform allelic association studies in the context of whole-genome search. However, specific study design strategies in large epidemiological studies as well as the best statistical approach will need to be established. We may expect the development of population-specific at-risk profiles for osteoporosis that would include genetic and environmental factors, as well as their interactions. This should eventually lead to better prevention strategies and more adapted therapies against osteoporosis.     

Diagnostic molecular genetics of the fragile X

The approaches to carrier detection and prenatal diagnosis of the fragile X syndrome using DNA probes are described. Since the definitive diagnosis rests upon the cytogenetic demonstration of the fragile X, molecular diagnoses are essentially confined to fragile X family members in whom the fragile X cannot be demonstrated. Since none of the polymorphic probes available are tightly linked to the fragile X, the preferred approach is to use probes which flank the fragile site. Useful probes are listed and suggested recombination fractions for use in diagnosis are given. A strategy is outlined for obtaining the closest informative flanking markers with the minimum amount of laboratory effort. Methods of risk analysis are discussed. It is concluded that molecular analysis is very useful for carrier detection but of limited use in prenatal diagnosis.     

遗传性骨病的分子遗传学研究进展

遗传性骨病是一大组临床和遗传异质性较强的骨软骨发育不良疾病,常见的临床表现包括矮身材、畸形、不成比例生长以及单个或一组骨骼发育不良。目前与软骨和成骨发育相关疾病的分子遗传学机制发展迅速,《国际遗传性骨病分类标准（2006年版）》共纳入372种遗传性骨病,并按其分子遗传、生化以及影像学特点分为37组,已明确其中215种与一个或多个基因突变相关,相关致病基因约140个。本文简要介绍《国际遗传性骨病分类标准（2006年版）》,综述了与骨软骨发育不良相关的基因如成纤维细胞生长因子受体3（FGFR3）、Ⅱ型胶原（COL2A1）等,以及基因突变导致的临床表现,为遗传性骨病的诊断、产前诊断以及骨软骨发育不良的基础研究提供帮助。     

Comparative genetics of the major histocompatibility complex in humans and nonhuman primates

The major histocompatibility complex (MHC) is one of the most gene‐dense regions of the mammalian genome. Multiple genes within the human MHC (HLA) show extensive polymorphism, and currently, more than 26,000 alleles divided over 39 different genes are known. Nonhuman primate (NHP) species are grouped into great and lesser apes and Old and New World monkeys, and their MHC is studied mostly because of their important role as animal models in preclinical research or in connection with conservation biology purposes. The evolutionary equivalents of many of the HLA genes are present in NHP species, and these genes may also show abundant levels of polymorphism. This review is intended to provide a comprehensive comparison relating to the organization and polymorphism of human and NHP MHC regions.     

Pelizaeus-Merzbacher病的分子遗传学研究进展

Pelizaeus-Merzbacher病(PMD)是罕见的遗传性脑白质营养不良病,是由于蛋白脂蛋白(poteolipid protein 1,PLP1)基因的突变导致髓鞘不能正常形成所致,其中以PLP1基因的重复突变最多见.PLP1基因不同的突变可导致特定的疾病类型,且基因型和表型之间总体上存在对应关系.本文对PMD的分子遗传学特点及近期对该病分子、细胞机制的认识进行综述.     

继发性高血压分子遗传学进展

继发性高血压虽然占高血压的比例较少,但是,若能明确诊断,继而可以进行针对病因的治疗,或可能根治。因此,研究继发性高血压的原因十分重要。近年分子生物学进展已经明确部分继发性高血压的致病基因,如家族性高醛固酮血症,部分妊娠高血压,可视性盐皮质类固醇过多症,Liddle氏综合征,假性低醛固酮血症Ⅱ型及部分家族性嗜铬细胞瘤。通过基因诊断进行早期病因诊断,早期治疗。随着科学技术进步,越来越多的所谓继发性高血压的发病原因会被找到,能够针对病因的治疗的病例会越来越多。     

Progress and pitfalls: bipolar molecular linkage studies

This paper reviews the history of molecular genetic linkage studies of bipolar disorder. The topic is introduced with a brief discussion of various genetic concepts, including linkage, lod scores and non-parametric statistics. It is emphasized that criteria for declaring linkage must include independent confirmation by a second group of investigators. Given that the inherited susceptibility for bipolar disorder is most likely explained by multiple genes of small effect, simulations indicate that universal confirmation of valid linkages cannot be expected. With this background, several valid linkages of BP disorder to genomic regions are reviewed. These valid linkages include 18p11, 18q22, 21q21, Xq26 and 4pter. The issue of anticipation and expanding triplet repeats is discussed. Finally, there is a brief section on recommendations for future genetic linkage studies of bipolar disorder.