Exclusive gene mapping of congenital microphthalmia in a Chinese family

Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia

Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14

Microphthalmia is a clinically and genetically heterogeneous disorder of eye development. The genetic basis of nonsyndromic microphthalmia is not yet fully understood. Previous studies indicated that disease pedigrees from different genetic backgrounds co

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping

Safety of tetanus toxoid in pregnant women: A hospital-based case-control study of congenital anomalies

Reported are the results of the Latin American Collaborative Study of Congenital Malformations (ECLAMC), a hospital-based case-control study of 34 293 malformed and 34 477 matched nonmalformed newborn controls. No statistical differences were found between the malformed and control groups, exposed or not exposed to tetanus toroid.

云南基诺族及汉族特发性全面强直-阵挛性癫(癎)与CLCN2基因的相关性

目的 研究氯离子通道CLC-2基因是否与中国云南地区基诺族及汉族特发性全面强直-阵挛性癫(癎)(IGTCS)相关.方法 以14例云南西双版纳傣族自治州景洪市基诺乡基诺族IGTCS患者及其16名未发病亲属、67例云南籍汉族IGTCS患者及57名云南籍汉族健康体检者为对照,对常染色体3q26上CLCN2基因的内含子2及外显子5、19(内含子18)进行研究,采用PCR及直接基因测序技术,应用病例-对照研究法对CLCN2基因与云南基诺族及汉族IGTCS进行相关性分析.结果 CLCN2基因的内含子2及外显子5、19在病例组和对照组中均没有发现已报道的易患突变,但我们在对外显子19的序列测定过程中发现了其上游内含子18的146位上存在1个单核苷酸多态性位点:146T→C.该位点的3种基因型(TT、TC、CC)在汉族病例组(9、3、29例)和汉族对照组(22、9、26例)之间的分布差异有统计学意义(x2=16.079,P＜0.05);在基诺族组(基诺族病例组+基诺族亲属组,6、12、12例)与汉族对照组(22、9、26例)之间分布差异亦有统计学意义(x2=7.027,P＜0.05).汉族病例组与汉族对照组间TT型与非TT型基因型(分别为9、32例和22、35例)、TC型与非TC型基因型(分别为3、38例和9、48例)比较差异有统计学意义(x2=10.694,OR=4.121,P＜0.05;x2=11.592,OR=0.238,P＜0.05).结论 CLCN2基因内含子18的多态性位点146T→C可能是中国云南地区基诺族与汉族IGTCS患者的1个相关性位点,且在本组有限的样本数量研究中,此SNP位点在两个民族IGTCS患者之间的分布无民族差异.基因型TT为IGTCS的1个保护性因素,基因型TC则增加了患者的易患性.

Distinct neurobehavioral consequences of prenatal exposure to sulpiride (SUL) and risperidone (RIS) in rats

Antipsychotic treatment during pregnancy is indicated when risk of drug exposure to the fetus is outweighed by the untreated psychosis in the mother. Although increased risk of congenital malformation has not been associated with most available antipsycho