性联隐性鱼鳞病和常染色体显性遗传...

用类固醇硫酸酯酶基因的ｃＤＮＡ为探针对１９例性联隐性鱼鳞病和１１例常染色体显性遗传（常显）鱼鳞病分别进行Ｓｏｕｔｈｅｒｎ杂交，发现８４％性联隐性鱼鳞病患者的ＳＴＳ基因缺失，且为全长ＳＴＳ基因缺失；常显鱼鳞病组均正常。此实验室检查对鱼鳞病的基因论断，携带者检测及产前诊断有较的意义。     

性联鱼鳞病分子发病机制的研究进展

性联鱼鳞病是一种遗传性皮肤病,一般在出生时或生后不久即发病。它不仅累及皮肤,而且累及其他系统。该病是由类固醇硫酸酯酶基因缺失或突变引起的,目前已发现一些不同的部分缺失形式或点突变,对发病机制有了较深入的了解,在药物和基因治疗方面取得了一定进展,为将来预防和治愈本病打下基础。     

常染色体隐性遗传性鱼鳞病研究进展

常染色体隐性遗传性鱼鳞病基因型与表型之间存在交叉重叠现象,病谱的分型仍然不甚清楚.从最初的生化到目前突变基因及其编码蛋白功能的分析,人们始终未能明确建立两者之间的关系.新基因位点的找寻对阐明本病的异质性起到重要的作用,已证实至少6个易感位点可导致本病.部分学者试图建立基因突变位点与电镜分型之间的关系,为此,概述近年来基因突变的研究进展及与电镜分型之间的关系.     

常染色体隐性遗传性鱼鳞病致病基因研究进展

常染色体隐性遗传性鱼鳞病（autosomal recessive congenital ichthyosis,ARCI）是一种罕见的以表皮分化异常、角化过度为特点的角化性皮肤病,可分为3种亚型：丑角样鱼鳞病、先天性非大疱性鱼鳞病样红皮病及板层状鱼鳞病。ARCI具有高度的遗传异质性,迄今已经发现了15个致病基因,该文就已发现的致病基因进行综述。     

性联鱼鳞病分子发病机制的研究进展

性联鱼鳞病是一种遗传性皮肤病，一般在出生时或生后不久即发病。它不仅累及皮肤，而且累及其他系统。该病是由类固醇硫酸酯酶基因缺失或突变引起的，目前已发现一些不同的部分缺失形式或点突变，对发病机制有了较深入的了解，在药物和基因治疗方面取得了一定进展，为将来预防和治愈本病打下基础。     

先天性常染色体隐性遗传性鱼鳞病一家系及PNPLA1基因突变分析

目的 鉴定一先天性常染色体隐性遗传性鱼鳞病家系的致病基因,并探讨基因型与表型的关系.方法 外周血中提取先证者及其哥、父母DNA,用全基因组外显子测序明确先证者的突变位点,根据突变位点设计特异性引物,用PCR来检测突变位点从而进一步确定该家系的致病原因.结果 发现先证者PNPLA1基因的一条等位基因第4号外显子上700位的胞嘧啶C被胸腺嘧啶T替代(c.700C＞T),导致了脯氨酸变成了丝氨酸(p.pro234ser),先证者哥也检测到相同突变;父母均为该突变基因的携带者,该突变在健康对照者中未检出.结论 PNPLA1基因的错义突变(p.pro234ser)是引起该患者临床症状的特异突变.     

X连锁隐性鱼鳞病基因型表型分析

目的:分析4例X连锁隐性遗传性鱼鳞病(X-linked ichthyosis, XLI)患者的临床表现及遗传变异。方法:从中国汉族人群收集XLI患者,记录临床特征及家系信息,通过全外显子组测序分析患者基因上的单核苷酸变异(SNV)、插入和缺失(INDEL)及拷贝数变异(CNV)。结果:共收集4例XLI患者,均检测到STS基因缺失。其中1例患者同时伴有一个已报道的FLG基因无义突变：c.5368C>T(p.Gln1790Ter),该患者表现类似表皮松解性鱼鳞病症状。结论:XLI临床表现差异较大,全外显子组测序是一种诊断XLI的有效方法。携带FLG基因突变的XLI患者倾向于更重的临床表现。     

X-linked recessive ichthyosis and autosomal dominant ichthyosis segregating in the same family

Summary Autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis segregated in three generations of a family and was studied clinically, histologically, and biochemically. Determination of stereoid sulfatase activity ascertained the diagnosis of X-linked recessive ichthyosis and allowed detection of heterozygous carriers.     

X linked recessive ichthyosis: Current concepts

In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.     

Gene diagnosis in X-linked ichthyosis

Summary Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect geno-type diagnosis) agree well with those based on the arylsulfatase C/-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic conselling.     

常染色体隐性遗传性鱼鳞病一家系表型、基因型与皮损超微结构研究

目的 探讨常染色体隐性遗传性鱼鳞病家系临床表型、基因型及超微结构。方法 观察常染色体隐性遗传性鱼鳞病患者临床表现。用PCR扩增TGM1基因15个外显子及其邻近剪切位点,双向直接测序;取先证者背部皮损做透射电镜观察,记录电镜表现特征。结果 先证者临床表现介于板层状鱼鳞病及非大疱性鱼鳞病样红皮病之间,其弟弟为火棉胶婴儿。先证者、其弟及父亲3号外显子第551位碱基胞嘧啶（C）→胸腺嘧啶（T）,其编码的第143位氨基酸由精氨酸变为半胱氨酸（R143C）;先证者、其弟及母亲4号外显子第759位胞嘧啶（C）→胸腺嘧啶（T）,使第212位氨基酸由丝氨酸转变为苯丙氨酸（S212F）。电镜观察发现,先证者皮损不仅有Ⅱ型结构表现,也同时存在Ⅲ型结构特征。结论 该家系患者携带复合杂合突变,R143C属于热点区,S212F为新发现的位点。携带TGM1基因突变的先证者皮损电镜表现为Ⅱ型,但同时发现有Ⅲ型结构存在。