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核型为46,XX的自发卵巢早衰患者干细胞因子KIT配位子基因(KITLG)的研究

世界核心医学期刊文摘（妇产科学分册） 2006年第11期2卷 29-30页

作者： Udofa E.A. Soto J. L.M. Nelson 朱亮 Section on Women's Health Research Developmental Endocrinology Branch National Institutes of Health Bethesda MD United States Dr.

Objective: To investigate mutations in the human KIT ligand gene (KITLG) gene as a mechanism of 46,XX spontaneous premature ovarian failure. The human KIT ligand gene, known also as human stem cell factor, is the ligand of the c-kit transmembrane tyrosine kinase receptor (KIT). This ligand-receptor interaction is known to play important roles in mouse germ cell migration and proliferation. Design: Cross-sectional study. Setting: Clinical research center. Patient(s): Forty women with 46,XX spontaneous premature ovarian failure. Intervention(s): None. Main Outcome Measure(s): Single-stranded conformational poly-morphism analysis and DNA sequencing. Result(s): We found one nucleotide change of the KITLG coding region (811G→ T) that led to an alteration of the amino acid composition of the KITLG protein in one Caucasian patient (Asp210Tyr). However, we found the same alteration in two normal control Caucasian samples. Three nucleotide substitutions were found in the noncoding exon of KITLG (exon 10). We also identified two intronic polymorphisms. Thus, we did not identify a single significant mutation in the coding region of the KITLG gene in any of 40 patients (upper 95% confidence limit is 7.2% ). Conclusion(s): Mutations in the coding regions of the KITLG gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women.

关键词： KITLG 卵巢早衰患者 XX 配位子干细胞因子核苷酸置换单链构象多态性非编码外显子临床研

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Toll样受体4(TLR4)基因多态性与脑缺血无关

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世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 13-13页

作者： Reismann P. Lichy C. Rudofsky G. 江山 Department of Neurology University of Heidelberg Im Neuenheimer Feld 400 69120 Heidelberg Germany Dr

Toll-like receptor-4 (TLR4), an important mediator of the innate immune response, is expressed in atherosclerotic lesions. The common single nucleotide exchange (Asp299Gly) of the TLR4 gene has been previously reported to impair TLR4 function and to be associated with a decreased risk of carotid atherosclerosis. Therefore, we aimed to detect the potential impact of TLR4 genotypes on the risk of cerebral ischemia. We studied the prevalence of two common polymorphisms of the TLR4 gene (Asp299Gly and Thr399Ile) in 3 independent study populations: (1.) in a cross sectional study including 769 patients either with type 1 or type 2 diabetes mellitus, of whom 56 (7.2% ) had a history of cerebral ischemia (stuyg 1), (2.) a case control study (study 2) including 128 consecutive patients with cerebral ischemia, mean age 60± 10.9 years and 139 control subjects, and(3.) a case control study (study 3) including 171 young adults aged < 50 years with cerebral ischemia and 204 control individuals. In all subjects, Asp299Gly and Thr399Ile were detected by restriction length analysis. The prevalence of the TLR4 genotypes was essentially the same between patients with cerebral ischemia and control subjects in all 3 study populations. Furthermore, there was also no association with the subgroup of atherosclerotic stroke in both case control studies populations. Although TLR4 polymorphisms are associated with a decreased risk of carotid atherosclerotic lesions, our findings indicate that they do not influence the prevalence of cerebral ischemia. This implies that the Asp299Gly TLR4 allele might have a protective role in carotid atherosclerosis, but not in cerebral ischemia.

关键词：脑缺血 TLR4 Toll样受体4 基因多态性核苷酸置换粥样硬化性受试人群片断长度病例对照研究横断面研究

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在1个意大利CADASIL患病家族中发现1种未累及半胱氨酸残基的新型Notch3基因突变

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世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 58-58页

作者： Mazzei R. Conforti F.L. Lanza P.L. A. Quattrone 王晓林 Department of Neurology Cattedra e U.O. di Neurologia Policlinico Materdomini Via T. Campanella 88100 Catanzaro Italy Dr.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.

关键词： Notch 基因突变 CADASIL 半胱氨酸残基脑动脉脑白质病表皮生长因子神经元缺失核苷酸置换常染色体

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