5例新生儿大疱表皮松懈症的护理

大疱表皮松懈症是以大疱为特征的遗传性疾病。临床上分3种类型：单纯型、营养不良型和交接型。单纯型为常染色体显性遗传;营养不良型为常染色体显性或隐性遗传;交界型为常染色体隐性遗传。主要特征为皮肤受压或摩擦后即可引起大疱,皮损易发生在受外力隐响的部位[1],多见于手、足、膝、肘、踝、臀部,出现大小不等的水疱、血疱、糜烂、结痂、色素沉着等。     

《中国医师进修杂志》2006年第6期内科版继续医学教育试题

(从下列多选题中选出一个正确答案)1.下列Alport综合征的遗传方式不正确的是:A.X连锁显性遗传B.X连锁隐性遗传C.常染色体显性遗传D.常染色体隐性遗传2.下列各分子诊断方法中,对于常染色体显性多囊肾病的诊断灵敏度高、特异度强、较成熟、应用最普遍的是:A.基因连锁分析B.单链构象多态性分析C.变性高效液相色谱分析D.荧光素原位杂交技术3.I型Bartter综合征编码基因是:A.SLC12A1B.KCNJ1C.CLCKB D.CASR4.Ⅲ型Bartter综合征临床上多表现为:A.新生儿型Bartter综合征B.经典型Bartter综合征C.Gitel man综合征D.Bartter综合征合并…     

遗传性痉挛性截瘫临床诊治与基因分型

遗传性痉挛性截瘫（hereditary spastic paraplegia,HSP）是一种神经系统的退行性病变,具有明显的遗传异质性,主要的临床特征表现为双下肢进行性痉挛和肌无力。根据临床表现可分为单纯型和复杂型2种,复杂型通常合并更广泛的神经或非神经系统表现。根据遗传类型分为：常染色体显性遗传,常染色体隐性遗传,X-连锁遗传和母系遗传,到目前为止已发现的亚型近60种。综述该领域的最新研究进展,主要包括基因分型及临床表现,便于临床医生在高度怀疑某种特定类型时,能准确地对患者进行亚型预判,有利于进一步的基因学诊断。     

Holt-Oram 综合征的产前超声诊断

1960年,Holt-Oram 首次论述一种先天性心脏畸形和上肢畸形的综合征,属于常染色体遗传病。随后的家族研究肯定了此综合征系伴有完全外显性的常染色体显性基因遗传,骨骼与心脏缺陷有着不同的表现。骨骼畸形范围从严重的短肢畸形到较小的畸形,诸如腕骨畸形,X 线摄影即明显可见。下列的骨骼结构可能受到影响:拇指(发育不全的鱼际隆起,拇指三指节畸形、指弯曲,并指,缺少第一掌骨,缺少大拇指),第五手指(短中间指骨、指弯曲),腕骨(畸形或附加腕骨),肩部(畸形的肩胛骨和/或锁骨,肱骨头部畸形、附加骨),桡骨和尺桡(部分或完全缺如,骨质联接)和胸骨畸形。有明显的骨骼不对称,左侧受影响常大于右侧。迄今,在 Holt-Oram 综合征中尚未见过下肢畸形报告。心脏畸形范围从联合出现严重的房间隔缺损,室间隔缺     

Kallmann综合征KAL1基因缺陷研究通过专家验收

<正> Kallmann综合征(简称KS)是一种较常见的遗传性单纯性促性腺激素释放激素(GnRH)缺乏症,可分为家族型KS和散发型KS两型。临床主要表现为性腺发育障碍、性征表现不明显及嗅觉丧失。而无嗅觉障碍者则称为特发性促性腺激素型性腺发育不全(IHH)。家族型KS患者的遗传模式可表现为常染色体显性、常染色体阴性及X连锁遗传。该病主要发病机制涉及胚胎发育中GnRH神经元由嗅板移至下丘脑的过程障碍,致使下丘脑GnRH分泌缺陷及嗅神经萎缩。上海第二医科大学瑞金医院于1999年7月～2002年3月选择了27例临床表现为外生殖器发育不良伴(或不伴)先天性嗅觉功能障碍     

糖原贮积症Ⅱ型的酶学诊断与产前诊断

糖原贮积症Ⅱ型（GSDⅡ型）也称为全身性糖原贮积症，是溶酶体中α-1，4-葡萄糖苷酶异常所致。GSDⅡ型为常染色体隐性遗传。其基因定位于染色体17q23。     

成人型多囊肾病

成人型多囊肾是一种临床常见的遗传性肾脏疾病。病人多在30～40岁出现腰腹部胀痛、血尿、高血压、尿路感染及腹块等症状。病程进展较缓慢,常在四十多岁时引起终末期肾衰,最终死于尿毒症。由于本病可在任何年龄中发生,故有人提出了常染色体显性遗传多囊肾的名称,以此与常染色体隐性遗传的所谓婴儿型多囊肾相区别,而事实上,后者也偶可在成人     

孕早、中期产前筛查3 208例结果分析

唐氏综合征（DS）又称为21三体综合征、先天愚型，是人类第1个被确诊的染色体数目异常疾病。其主要的损害是导致患儿严重的智力低下和心血管畸形。这种病在活产婴儿中的自然发生率为1／785。18三体综合征也是一种后果十分严重的常染色体数目异常疾病。此病患儿具有比唐氏综合征患儿更严重的智力低下、心血管畸形和体表畸形。     

Waardenburg综合征II型SOX10基因突变一家系分析并文献综述

Waardenburg综合征(WS)又称听力色素综合征,由荷兰眼科学家Waardenburg在1951年首先提出,是一种较为常见的综合征遗传性耳聋,占先天性耳聋的2%~5%,其发病在男女及种族间无明显差异。临床表现以先天性感觉神经性听力丧失及虹膜、头发和皮肤的色素异常沉着为主要特征,目前认为其病因主要是由神经嵴细胞发育缺陷或障碍引起。根据临床表现的不同分为Ⅳ型,主要致病基因包括:EDN3,EDNRB,MITF,PAX3,SNAI2,SOX10等。研究报道显示WSⅠ、WSⅡ、WSⅢ型为常染色体显性遗传,WSⅣ型中由SOX10基因突变引起的为常染色体显性遗传,由EDN3和ED NRB基因突变导致为常染色体隐性遗传。本研究报道了1例SOX10新发基因突变导致WSⅡ型的家系病例。     

第三节先天性肾上腺皮质增生症

1概述 先天性肾上腺皮质增生症（congenitaladrenalhyperpasia,CAH）是较常见的常染色体隐性遗传病。由于糖皮质激素合成过程中某种酶的缺陷造成盐皮质激素、糖皮质激素或性激素等失调,而出现临床异常表现。     

Early onset periodontitis: a comparison and evaluation of two proposed modes of inheritance

Two rare types of familial periodontitis, a localized form usually diagnosed in late adolescence, and a more generalized form with a latter mean age of diagnosis, have been analyzed with respect to genetic models currently favored in the dental literature. These include autosomal recessive and X-linked dominant (partial penetrance) inheritance. Since there is variation in severity, extent, age of onset, altered sex ratio of affected individuals, and a low population prevalence, it is not surprising that genetic mechanisms heretofore have not been revealed. We have compared the likelihoods of 33 kindreds ascertained through affected probands under the above genetic models. Our findings include (1) several families in which both forms of early onset periodontitis co-occur, making it unlikely that the clinical varieties of the disease have unrelated genetic causes; (2) the autosomal recessive model is far more likely than the X-linked dominant model. The superiority of the recessive hypothesis arises from the fact that there are only a few instances of affected individuals having affected parents and because the skewed sex ratio is shown to be incompatible with X-linked inheritance. These conclusions are largely insensitive to the assumptions of the analysis. We conclude that the X-linked dominant hypothesis is inadequate, and while the autosomal recessive model is by no means proven, it is clearly favored.     

低血磷抗维生素D佝偻病的遗传分型及研究进展

低血磷抗维生素D佝偻病(HR)又称家族性低磷血症或肾性低血磷性佝偻病,是一种以肾磷酸盐丢失、维生素D代谢及骨矿化障碍为特征的单基因遗传性疾病。根据疾病是否受FGF23因子调控,可将疾病大体分为FGF23依赖性HR和非FGF23依赖性HR两大类。目前已经发现多个明确与HR相关的致病基因,包括X-性连锁、常染色体显性、常染色体隐性。本文就低血磷抗维生素D佝偻病的遗传分型及研究进展进行综述。     

低血磷抗维生素D佝偻病的遗传分型及研究进展

低血磷抗维生素D佝偻病(HR)又称家族性低磷血症或肾性低血磷性佝偻病,是一种以肾磷酸盐丢失、维生素D代谢及骨矿化障碍为特征的单基因遗传性疾病。根据疾病是否受FGF23因子调控,可将疾病大体分为FGF23依赖性HR和非FGF23依赖性HR两大类。目前已经发现多个明确与HR相关的致病基因,包括X-性连锁、常染色体显性、常染色体隐性。本文就低血磷抗维生素D佝偻病的遗传分型及研究进展进行综述。     

缺血性脑血管疾病的遗传模式

目的探讨缺血性脑血管疾病的遗传模式。方法对157个缺血性脑血管家系用分离分析法和多基因阈值理论进行遗传模式的研究。结果缺血性脑血管发病既不符合常染色体显性遗传和隐性遗传模式也不符合性连锁遗传方式,而属于多基因遗传病。结论缺血性脑血管病为多基因遗传疾病,平均遗传度为(75.06±3.23)%,对有遗传易感性人群应重点管理,加强防治。     

From gene to disease; hypogonatrophic hypogonadism and anosmia: Kallmann's syndrome

Kallmann's syndrome is a genetic condition characterised by hypogonadotrophic hypogonadism and anosmia; additional neurological and non-neurological symptoms may also occur depending on the specific mode of inheritance. Mode of inheritance can be X-linked (KAL-1), autosomal dominant (KAL-2) or autosomal recessive (KAL-3), although unrelated sporadic cases occur more frequently. The gene responsible for the X-linked form, namely KAL-1, and its encoded protein anosmin-1 have been identified for some time. Very recently the gene responsible for the autosomal dominant form was also identified. KAL-2 is caused by loss-of-function mutations in the gene encoding fibroblast growth-factor receptor-1 (FGFR1).     

Single-gene autosomal recessive disorders and Prader-Willi syndrome: an update for food and nutrition professionals

This review is an update for food and nutrition professionals about single-gene autosomal recessive disorders and Prader-Willi syndrome. These disorders highlight the application of new genetic tools for screening newborns for conditions managed by medical nutrition therapy. Early detection and dietary treatment have been crucial since the 1960s for patients diagnosed with phenylketonuria. The same concept of reducing the dietary substrate that accumulates in disease is applied today for some conditions difficult to diagnose a decade ago. More than 6,000 human single-gene disorders have been identified to date, including more than 100 protein-based metabolic disorders. Tandem mass spectrometry has facilitated newborn screening for more disorders at low cost and high speed. Presently, screening newborns for 29 disorders is recommended in the United States and many states are doubling or tripling the number of tests offered in their screening programs. Complex dietary therapies have evolved for rare disorders, such as fatty acid oxidation, urea cycle, organic acid metabolism, glycogen storage, and energy production. Diagnosis-specific therapy may challenge routine dietary recommendations, such as encouraging fatty and sugary foods or avoiding fruits and milk, and treatment options have spawned a market in special formulas and substitute foods; recommended references and Web sites are provided to assist food and nutrition professionals in navigating this territory. Single-gene autosomal recessive disorders have increased the need for, and created opportunities for, food and nutrition professionals, especially those who enjoy biochemistry.     

先天性运动型眼球震颤的分子遗传学研究进展

先天性运动型眼球震颤(Congenital motor nystagmus,CMN)是一种常见的眼科遗传病,在新生儿中发生率较高,具有较高的遗传异质性,其遗传方式包括常染色体显性、常染色体隐性和X连锁等。近年来随着分子生物学技术的发展和在遗传病研究中的应用,CMN的遗传学研究取得了较多进展。目前X连锁遗传的CMN致病基因FRMD7已经被定位在Xq26-q27,但对FRMD7基因的功能和致病机制仍需进一步研究。本文对CMN的分子遗传学研究进展进行综述。     

Investigation of the gene locus in autosomal polycystic kidney disease in a 21 year old female patient with congenital hepatic fibrosis and polycystic liver

BACKGROUND: Congenital hepatic fibrosis is an uncommon cause of portal hypertension in childhood or the early adolescence, usually presented with hepatomegaly and bleeding from esophageal varices. Despite the hepatomegaly and the fibrotic reconstruction of the liver the liver function tests are usually normal. In most cases it is associated with cystic disease of the kidneys. Congenital hepatic fibrosis is a constant feature of autosomal recessive polycystic kidney disease. CASE: The authors report on the case of a female patient with polycystic kidneys and polycystic liver. The symptoms of portal hypertension presented in the age of 20, on the basis of liver biopsy congenital hepatic fibrosis was diagnosed. AIMS: The authors intended to investigate whether there is genetic alteration as common etiology behind the rare association of congenital hepatic fibrosis confirmed in the adolescence and the polycystic disease of the liver and the kidneys. The clinical manifestation raised the possibility of autosomal recessive polycystic kidney disease. Segregation of microsatellite markers for autosomal recessive polycystic kidney disease gene locus 6p21.1-p12 was examined in the affected family to assess the possible role of theis gene. RESULTS: Four out of the 6 polymorphic microsatellite markers were informative, indicating that the autosomal recessive polycystic kidney disease may be responsible for the development of the rare association of the lesions of the liver and the kidneys in authors' patient.