一遗传性单纯少毛症家系的基因定位

目的：确定一遗传性单纯少毛症家系的致病基因。方法：通过定位候选克隆技术，用ABI公司的商品化微卫星标记，进行全基因组扫描，明确致病基因的区域。结果：在微卫星标记D13S217处得到最高IDD值3．74（重组率θ=0．00）。结论：本研究将该遗传性单纯少毛症家系的致病基因定位于13号染色体上。     

单卵双胎同患慢性光化性皮炎四代一家系调查

目的 探讨单卵双胎同患慢性光化性皮炎4代一家系发病情况及病变特征,明确其遗传关系。 方法 对先证者及其家族的临床资料、实验室检查进行分析。结果 家系4 代76 名成员中共检出慢性光化性皮炎患者22 例,其中男14例,女8 例,有关的实验室检查及环境因素调查均为阴性。结论 慢性光化性皮炎一家系调查中显示具有遗传性特性,符合常染色体显性遗传规律。     

遗传性全白甲一家系的CRYGA、CRYGB、CRYGC和CRYGD基因突变分析

目的: 分析常染色体显性遗传全白甲病家系的候选基因γ晶状体球蛋白基因(CRYGA、CRYGB、CRYGC和CRYGD)的突变与本病的相关性.方法: 对以上4个基因的全部外显子区域及邻近内含子区域进行PCR扩增,其产物进行直接测序,根据测序结果分析此四个基因突变.结果: 在CRYGA、CRYGB、CRYGC和CRYGD基因外显子区域及邻近内含子区域内检测到5个多态性位点,未检测到致病的基因突变.结论: CRYGA、CRYGB、CRYGC和CRYGD基因编码区域的变异不是引起此全白甲家系的致病基因突变.     

遗传性对称性色素异常症一家系DSRAD基因新突变

目的：检测遗传性对称性色素异常症家系中DSRAD基因的突变。方法：收集遗传性对称性色素异常症一家系成员的血样,PCR扩增DSRAD基因的全部外显子,并行DNA测序。以100例无家系背景,且无色素异常的成年人作对照。结果：该家系中的患者均存在DSRAD基因中第3463位碱基发生了C→T的杂合突变,可造成对应1155位的精氨酸被色氨酸替代,家系中非患病者及对照组正常人未发现相应突变。结论：DSRAD基因是遗传性对称性色素异常症的致病基因。     

三例遗传性对称性色素异常症的基因突变研究

遗传性对称性色素异常症(dyschromatosis symmetrica hereditaria,DSH)是一种常染色体显性遗传性皮肤病。2003年,中国和日本的两个研究组各自完成了DSH致病基因的定位工作,家系全基因组扫描连锁定位于1号染色体上。日本的研究组首先发现了该病的致病基因为双链RNA特异性腺苷脱氨酶(double-strand RNA-specificadenosine deaminase,DSRAD)基因,该基因突变导致DSH的发生。     

Marie Unna遗传性稀毛症的遗传异质性

目的对中国汉族人Marie Unna遗传性稀毛症进行基因组精细定位,从而为进一步找到该病的致病基因奠定基础。方法用覆盖8p21的18个微卫星标记对2个家系进行局部基因组扫描,利用Linkage软件(5.10版)和Cyrillic软件(2.02版)进行连锁和单倍型分析。结果家系1在常染色体显性遗传模式、外显率为99.9％时,在8号染色体上的微卫星标记D8S298和D8S1725处获得LODS(连锁分数)为3.01(θ=0.00)；单倍型分析将其定位于D8S282～D8S1839之间的1.1 cM内。家系2的连锁分析排除与8p21连锁。结论 Marie Unna遗传性稀毛症存在遗传异质性。     

遗传性对称性色素异常症一家系致病基因的定位和突变研究

目的 探讨遗传性对称性色素异常症家系的致病基因。方法 明确先证者的临床诊断后,收集该家系成员的血样抽提基因组DNA,应用基因分型和连锁分析的方法进行基因定位,并对该定位区域内DSRAD基因直接测序,分析其突变位点。结果 基因分型和连锁分析将该家系的致病基因定位于1号染色体,和已知报道的区域一致。突变研究发现该家系所有患者的DSRAD基因2号外显子均携带CAA→TAA的突变,使得517位氨基酸由谷氨酰胺变成中止密码子。结论 该遗传性对称性色素异常症家系中的患者存在DSRAD基因的无义突变。     

遗传性对称性色素异常症一家系ADAR1致病基因突变检测

目的:检测1例遗传性对称性色素异常症(DSH)并发银屑病患者及其家系ADAR1致病基因的突变情况。方法:收集该家系患者临床资料,抽取家系中所有成员及与该家系无关的100例健康人外周血,提取外周血DNA,PCR扩增外周血基因组DNA ADAR1基因的15个外显子编码区并对所扩增序列直接测序检测突变位点。同时对家系所有成员进行体格检查及血液学实验室检查。结果:临床资料分析显示,仅先证者表现为DSH并发银屑病,家系中其他患者仅表现为表型轻重不一的DSH。基因分析发现先证者及家系中其他患者均存在ADAR1基因c.2745_2746del CT(p.D582X)突变。家系中表型正常者及对照组不存在此突变,经多个数据库文献检索及对照最新文献未发现该突变的相关报道,考虑为新突变位点。结论:ADAR1基因突变c.2745_2746del CT(p.D582X)可能导致了DSH的发生,但该家系中临床表型不同及轻重不一的原因尚需进一步研究。     

一个遗传性对称性色素异常症家系ADAR1基因突变分析

目的 检测1个遗传性对称性色素异常症家系中ADAR1基因的突变位点。方法 提取一遗传性对称性色素异常症家系成员（5例患者,3例非患者）和100例无血缘关系的健康对照外周血标本,PCR扩增ADAR1基因全部15个外显子序列并测序,参考Genebank中ADAR1基因标准序列对比分析突变位点。结果 该家系5例患者ADAR1基因2号外显子第1 420位碱基C突变为T,为无义突变,即C.1420C > T（p.Arg474X）,家系其他健康成员和100例无关健康人中未发现此突变。结论 该遗传性对称性色素异常症家系的致病突变为ADAR1基因C.1420C > T无义突变。     

遗传性对称性色素异常症

报告1例遗传性对称性色素异常症家系并进行基因突变检测。先证者双手及足背褐色斑点与色素减退斑9年。皮肤科检查：双手、足背出现散在褐色斑点与色素减退斑。基因检测发现先证者及其他患者ADAR基因第8外显子存在新的突变c.2628delA。c.2628delA突变为该家系的致病突变,基因型与表型无明确相关性。     

Leukonychia totalis

Our patient presented with leukonychia totalis at the age of 15 years. Other malformations such as syndromes or underlying internal diseases did not exist. The patient’s family history was unremarkable. In the classification of leukonychias, the real, usually hereditary leukonychia can be distinguished from the acquired form. The white color of the nails can be isolated, depending on its present form, appear as part of a syndrome, or as a result of internal disease. An effective treatment of hereditary leukonychia is not known.     

Monilethrix

Monilethrix is rare hereditary disorder which is in herited as autosomal dominant trit. We report two siblings with a combination of monilethrix and leukonychia.     

Leukonychia partialis. A phase of leukonychia totalis

Accumulated evidence indicates that leukonychia striata and leukonychia totalis are distinct entities transmitted by automonal dominant gene. Much less secure is the status of leukonychia partialis in which the nail is white proximally and pink near its free edge. Leukonychia totalis and leukonychia partialis have occurred in different members of the same family and on different digits of an individual simultaneously, and either has presented as the clinical manifestation in an individual at different times. The two conditions are probably expressions of the same genetic defect. Historically, the term leukonychia totalis has priority over leukonychia partialis and the former form should be used, with the latter considered a variation of it.     

Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?

The association of familial totalis leukonychia with multiple pilar cysts is a rare condition that could represent a separate syndromic entity. Since Bauer described a family with totalis leukonychia and sebaceous cysts in 1920, only four new affected families have been reported. We report a five-generation family with a total leukonychia and multiple pilar cysts on the scalp. The hypothesis of a deficiency of a gene regulating the structure of keratin has been postulated but the exact genetic mechanism has not been yet determined. In our family, no other keratinizing structures were involved.     

Sporadic congenital leukonychia with partial phenotype expression

GOAL: To describe the characteristics and inheritance pattern of a case of congenital leukonychia. OBJECTIVES: 1. To describe the etiologies of congenital and acquired leukonychia. 2. To discuss the differential diagnosis of leukonychia. 3. To outline inheritance patterns associated with leukonychia.     

Association of pili torti and leukonychia

A patient with both pili torti and leukonychia had a family history indicating dominant inheritance for the nail changes. However, no relatives had hair abnormalities. The authors briefly review both of these unusual entities.     

Mutation in the MSH2 gene in Muir-Torre syndrome]

BACKGROUND: The Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by skin tumors associated with adenocarcinoma of the colon or other neoplasias observed in the context of hereditary non-polyposis colorectal cancer (HNPCC). The Muir-Torre syndrome is also characterized by the frequent presence of multiple colonic polyps and the relatively moderate aggressivity of the tumors. CASE REPORT: We studied a family with Muir-Torre syndrome. We sequenced the exons of the hMSH2 gene in this family and identified heterozygous germinal mutation by G insert at position 2427 (2427insG). This mutation changes the lecture phase producing a premature codon stop. DISCUSSION: Our study confirms the predominant responsibility of the hMSH2 gene in Tuir-Torre syndrome. This clinical case and data reported in the literature demonstrate the importance of searching for a history of non-polyposis colorectal cancer in patients and relatives and the unstable genome characteristic of these tumors found in sebaceous tumors or keratoacanthomas. Sequencing the hMSH2 gene should be a priority when clinical features, history and laboratory tests suggest Muir-Torre syndrome.     

600例白癜风毛发及指甲变化的分析

目的：了解白癜风毛发和指甲的变化情况。方法：对600例白癜风患者的毛发和指甲变化情况进行临床分析。结果：600例白癜风患者中，80例（13．33％）出现点状白甲，2例出现线状白甲，1例出现双手全指甲营养不良，4例指甲出现点状凹陷，40例（6．67％）出现程度和数量不等的甲横沟、纵嵴或甲分离；385例（64．17％）头部出现数量不等的白发；28例（4．67％）部分眉毛变白，37例（6．17％）部分胡须变白，45例（7．50％）部分阴毛变白，25例（4．17％）部分腋毛变白，31例（5．17％）躯干或四肢部分毳毛变白，而白发区无皮肤变白；554例（92．33％）有白斑区部分毛发变白；41例患者（6．83％）合并斑秃。结论：毛发和指甲可能是白癜风皮肤以外较为常见的受累部位。     

Keratoderma,hypotrichosis and leukonychia totalis: a new syndrome?

Summary We report three members of a family with congenital hypotrichosis, characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. They also developed a progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. As far as we are aware, this combination of clinical features has not been described previously.     

遗传性出血性毛细血管扩张症一家系ALK1基因突变研究

目的:研究遗传性出血性毛细血管扩张症(HHT)一家系ALK1基因突变情况,分析基因型与表现型之间的关系.方法:收集1例HHT家系,采用聚合酶链反应(PCR)扩增该家系成员的ALK1基因全部编码外显子及其侧翼序列,并对PCR产物进行序列分析,以家系中的健康者和100例无血缘关系的正常人作对照.结果:该家系中所有患者均出现ALK1基因的错义突变c.101 0T>C(p.L337P),即第1010位碱基由胸腺嘧啶(T)突变为胞嘧啶(C),使得ALK1基因第7号外显子第337位密码子由CTG变为CCG,导致正常的亮氨酸被脯氨酸替代.结论:ALK1基因的错义突变c.1010T>C(p.L337P)是导致该家系临床表型的主要原因.