中国X连锁视网膜色素变性家系RPGR新突变

目的 检测分析被诊断为X连锁视网膜色素变性（XLRP）的三个中国家系内的基因突变。设计 基因研究。研究对象 三个中国XLRP家系共27位受试者（其中18人为男性）。方法 由同一医生收集家系成员的详细临床资料并进行眼部检查，采集三个家系的先证者及有条件采血者的外周静脉血，提取基因组DNA。应用PCR技术扩增RPGR和RP2基因的全部外显子和内含子交界区序列，包括RPGR基因15号外显子开放阅读框，产物直接测序进行突变分析。主要指标 临床特征及基因测序结果。结果 基因筛查证实了两个RPGR基因的新型无义突变(c.1541C>G;p.S514X 和 c.2833G>T;p.E945X) 及一个错义突变(c.607G>C;p.A203P)。基因型-表型的相关性分析表明家系3患者在接近ORF15下游位置存在突变，这种突变导致视锥细胞功能的早期丧失。ORF15无义突变的女性携带者临床表型重，呈现出部分显性遗传的特点。结论 本研究证实了三种RPGR基因的新型突变，这一结果扩展了RPGR的突变谱及表型谱。     

Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.     

Alternative graphical representations of genotypes in a pedigree

Three representations of the conditional independences due toMendelian segregation of genes in a pedigree are proposed. Thecomputational costs of performing calculations using the techniqueof peeling with each of these representations is compared byconsidering the weights of triangulations of the graph producedby each representation.     

Ignoring Distant Genealogic Loops Leads to False-positives in Homozygosity Mapping

Distant consanguineous loops are often unknown or ignored during homozygosity mapping analysis. This may potentially lead to an increased rate of false-positive linkage results. We show that failure to take into account the distant loops may seriously underestimate the degree of consanguinity, especially for people from genetically isolated populations; in 6 Alzheimer's disease (AD) patients the distant loops accounted for 57.7 % of inbreeding on average. Theoretical evaluation showed that ignoring distant loops, which account for 18-75% of inbreeding, inflates the frequency of false positive conclusions substantially in 2-point linkage analysis, up to several hundred times. In multipoint linkage analysis of the 6 AD patients a chromosome-wide "empirical" significance of 5% corresponded to a true false positive rate of 11.1%. We show that converting multiple loops to a hypothetical loop capturing all inbreeding may be a convenient solution to avoid false positive results. When extended genealogic data are not available a hypothetical loop may still be constructed based on genomic data.     

见于湖南的一例血红蛋白G-台中家系

见于湖南江华县的一例慢泳血红蛋白α链变种,其先证者为汉族青年,属杂合子。家系调查发现其父、大姐和弟均携有同样的异常Hb。血液学常规检查一般正常。除先证者肝在肋缘下0.5cm扪及外,无任何临床症状。经一级结构分析,确证此例为HbG一台中[α74(EF3)Asp→His]。功能观测其氧平衡特征与HbA无差异。这是见于湖南的首例。     

Alopecia universalis as a single abnormality in an inbred Pakistani kindred

A Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele. © 1993 Wiley-Liss, Inc.     

遗传性非息肉病性大肠癌5家系分析

目的提高对遗传性非息肉病性大肠癌（ＨＮＰＣＣ）本质的认识,了解其家庭易感性及聚集倾向。方法对５例 ＨＮＰＣＣ家系进行回顾性分析。结果ＨＮＰＣＣ的主要特点是常染色体显性遗传,病灶好发于右半结肠,伴发大肠以外器 官恶性肿瘤,发病年龄轻。结论应对ＨＮＰＣＣ患者及其家族严密监测、随访,以便早期诊断,合理治疗,改善预后。     

Nationality differences in distributions of serum lipids, lipoproteins and apolipoproteins levels in Xinjiang China

目的　种族间血脂水平的差异已有研究。本文拟探讨民族间血脂、脂蛋白及载脂蛋白水平是否也存在差异。方法　作者对新疆地区的汉族居民 911人 (男性 4 6 6人 ,女性 4 45人 )及哈萨克族居民 773人 (男性 36 0人 ,女性4 13人 )随机个体血总胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白胆固醇 (HDL c)、低密度脂蛋白胆固醇 (LDL c)、脂蛋白 (a) (Lp(a) )及载脂蛋白A1(ApoA1)、载脂蛋白B(ApoB)进行测定。结果　与汉族人群比较 ,哈萨克族人群男、女均分别有较高的HDL c(P <0 0 0 1)和ApoA1(P <0 0 0 1)水平与较低的TG(P <0 0 1,P <0 0 0 1)、Lp(a) (P <0 0 0 5 )、ApoB(P <0 0 0 5 ,P <0 0 0 1)及较低的ApoB/ApoA1值 (P <0 0 1,P<0 0 0 1) ;汉族人群有 2 0 7%的个体ApoA1水平值低于 1 2g/L ,而在哈萨克族人群中只有 9 8%的个体ApoA1值低于 1 2g/L ,汉族人群有 18 6 %的个值ApoB值高于 1 2g/L ,而在哈萨克族人群中只有 14 3%的个体ApoB水平值超过 1 2g/L ;多因素相关与回归分析发现 :TG、HDL c、Lp(a)、ApoAI及ApoB/ApoAI值水平均与民族有密切的相关关系。结论　血脂、Lp(a)、ApoA1及ApoB水平存在显著的民族间的差异 ,哈萨克族人群具有较汉族人群明显为优的血脂谱 ,推测遗传因素可能控制和影响着个体     

高血压家系高血压发病危险因素分析

目的分析高血压家系中高血压患者与非高血压者各项危险因素的差别。方法2003～2004年，在江苏省常州地区收集104个高血压家系直系血亲513人进行问卷调查和实验室检查。结果高血压家系中高血压患者较非高血压者血糖、血脂、体质指数（BMI）、腰围均高。Logistic回归分析结果显示，文化程度、吸烟、饮酒与发生高血压存在相关关系。2组代谢综合征的发生率差异有统计学意义（P〈0．001）。结论高血压家系人口代谢综合征的发生率高．主要预防措施为控制体重、吸烟、饮酒、降低血脂。